Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs Other IDs Associated diseases
Entrez ID	215
Gene name	ATP binding cassette subfamily D member 1
Gene symbol	ABCD1
Synonyms (NCBI Gene)	ABC42ALDALDPAMN
Chromosome	X
Chromosome location	Xq28
Summary	The protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, M

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SNP ID	Visualize variation	Clinical significance	Consequence
rs4010613	C>A,T	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs11146842	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs128624214	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624215	C>G,T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624219	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624220	C>T	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624221	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs128624222	G>A,T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained, missense variant
rs128624223	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624224	C>G,T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs128624225	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs140263823	G>A,C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs141110958	C>G,T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, synonymous variant
rs150346282	G>A	Pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs193922093	->C	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs193922094	T>C	Likely-pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201568579	G>A	Pathogenic	Non coding transcript variant, coding sequence variant, missense variant
rs201774661	T>A,C	Conflicting-interpretations-of-pathogenicity, likely-benign	Non coding transcript variant, coding sequence variant, missense variant
rs202125585	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, non coding transcript variant, coding sequence variant
rs387906494	AG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs387906495	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs398123100	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123102	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123103	G>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123104	C>A,T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123105	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123106	C>T	Pathogenic-likely-pathogenic, pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs398123107	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs398123108	G>A,T	Likely-pathogenic, pathogenic	Intron variant
rs727503786	C>A,G,T	Likely-pathogenic, pathogenic	Non coding transcript variant, synonymous variant, missense variant, coding sequence variant
rs781862879	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs782041940	G>A,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, non coding transcript variant, missense variant
rs782266592	G>C,T	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs797044625	AC>-,ACAC	Likely-pathogenic, pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs797044626	A>G	Pathogenic	Splice acceptor variant
rs797044726	C>T	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs797044781	G>A	Pathogenic	Splice acceptor variant
rs886044777	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs1064793877	C>T	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant
rs1170974058	C>A,G,T	Pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, stop gained
rs1557054153	G>A	Likely-pathogenic	Splice acceptor variant
rs1557054210	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1557054318	C>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557054745	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054776	C>T	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054873	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557054875	T>G	Pathogenic	Splice donor variant
rs1557055253	GTGG>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055260	A>G	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055311	G>A,C	Likely-pathogenic	Splice acceptor variant
rs1557055316	G>A	Pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055337	C>T	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055340	G>A,T	Uncertain-significance, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055392	->GC	Likely-pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1557055405	T>A	Likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs1557055406	G>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1569540883	AG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541000	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1569541006	G>A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541007	G>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541009	CCCTCAGGTGACGGAGCTGGCT>-	Pathogenic	Coding sequence variant, splice acceptor variant, non coding transcript variant, intron variant
rs1569541088	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541093	TACATCCC>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541096	G>A	Pathogenic	Splice donor variant
rs1569541109	A>G	Pathogenic	Splice acceptor variant
rs1569541115	->C	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1569541198	G>A	Pathogenic	Splice donor variant
rs1569541203	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1569541207	->G	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603233089	C>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603233120	T>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234451	->GGCAGCCT	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234466	A>C	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603234501	A>T	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603234574	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603234759	C>G	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235263	G>A	Likely-pathogenic	Splice acceptor variant
rs1603235267	A>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1603235321	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235389	G>A	Pathogenic	Splice acceptor variant
rs1603235406	TG>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603235421	CTGGACGTC>-	Likely-pathogenic	Coding sequence variant, inframe deletion, non coding transcript variant
rs1603235901	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs1603235941	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236013	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1603236020	C>T	Likely-pathogenic	Coding sequence variant, non coding transcript variant, missense variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT029416	hsa-miR-26b-5p	Microarray	19088304
MIRT050424	hsa-miR-23a-3p	CLASH	23622248
MIRT039787	hsa-miR-615-3p	CLASH	23622248
MIRT053394	hsa-miR-96-5p	Microarray	23807165
MIRT758715	hsa-miR-1202	CLIP-seq
MIRT758716	hsa-miR-125a-3p	CLIP-seq
MIRT758717	hsa-miR-1266	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT758719	hsa-miR-1275	CLIP-seq
MIRT758720	hsa-miR-23a	CLIP-seq
MIRT758721	hsa-miR-23b	CLIP-seq
MIRT758722	hsa-miR-23c	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT758724	hsa-miR-3151	CLIP-seq
MIRT758725	hsa-miR-3175	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT758728	hsa-miR-3188	CLIP-seq
MIRT758729	hsa-miR-3197	CLIP-seq
MIRT758730	hsa-miR-3605-5p	CLIP-seq
MIRT758731	hsa-miR-3612	CLIP-seq
MIRT758732	hsa-miR-3619-3p	CLIP-seq
MIRT758733	hsa-miR-3665	CLIP-seq
MIRT758734	hsa-miR-3972	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758736	hsa-miR-4265	CLIP-seq
MIRT758737	hsa-miR-4283	CLIP-seq
MIRT758738	hsa-miR-4296	CLIP-seq
MIRT758739	hsa-miR-4316	CLIP-seq
MIRT758740	hsa-miR-4322	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT758742	hsa-miR-4443	CLIP-seq
MIRT758743	hsa-miR-4447	CLIP-seq
MIRT758744	hsa-miR-4472	CLIP-seq
MIRT758745	hsa-miR-4518	CLIP-seq
MIRT758746	hsa-miR-4525	CLIP-seq
MIRT758747	hsa-miR-4665-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758750	hsa-miR-4723-5p	CLIP-seq
MIRT758751	hsa-miR-4776-5p	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758753	hsa-miR-491-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758756	hsa-miR-581	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT758759	hsa-miR-591	CLIP-seq
MIRT758760	hsa-miR-625	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq
MIRT758762	hsa-miR-650	CLIP-seq
MIRT758763	hsa-miR-657	CLIP-seq
MIRT1923689	hsa-miR-1208	CLIP-seq
MIRT758718	hsa-miR-1273f	CLIP-seq
MIRT1923690	hsa-miR-1292	CLIP-seq
MIRT1923691	hsa-miR-1915	CLIP-seq
MIRT758723	hsa-miR-3119	CLIP-seq
MIRT1923692	hsa-miR-3126-5p	CLIP-seq
MIRT1923693	hsa-miR-3160-3p	CLIP-seq
MIRT758727	hsa-miR-3187-3p	CLIP-seq
MIRT1923694	hsa-miR-3190	CLIP-seq
MIRT1923695	hsa-miR-34a	CLIP-seq
MIRT1923696	hsa-miR-34c-5p	CLIP-seq
MIRT1923697	hsa-miR-361-3p	CLIP-seq
MIRT1923698	hsa-miR-3689a-3p	CLIP-seq
MIRT1923699	hsa-miR-3689c	CLIP-seq
MIRT1923700	hsa-miR-3929	CLIP-seq
MIRT1923701	hsa-miR-4270	CLIP-seq
MIRT1923702	hsa-miR-4318	CLIP-seq
MIRT1923703	hsa-miR-4419b	CLIP-seq
MIRT758741	hsa-miR-4435	CLIP-seq
MIRT1923704	hsa-miR-4441	CLIP-seq
MIRT1923705	hsa-miR-4471	CLIP-seq
MIRT1923706	hsa-miR-4478	CLIP-seq
MIRT1923707	hsa-miR-4481	CLIP-seq
MIRT1923708	hsa-miR-4487	CLIP-seq
MIRT1923709	hsa-miR-449a	CLIP-seq
MIRT1923710	hsa-miR-449b	CLIP-seq
MIRT1923711	hsa-miR-4505	CLIP-seq
MIRT1923712	hsa-miR-4632	CLIP-seq
MIRT1923713	hsa-miR-4646-5p	CLIP-seq
MIRT1923714	hsa-miR-4649-5p	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT758748	hsa-miR-4701-5p	CLIP-seq
MIRT1923716	hsa-miR-4704-3p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT1923717	hsa-miR-4728-5p	CLIP-seq
MIRT1923718	hsa-miR-4745-5p	CLIP-seq
MIRT758754	hsa-miR-548s	CLIP-seq
MIRT1923719	hsa-miR-558	CLIP-seq
MIRT758755	hsa-miR-564	CLIP-seq
MIRT758758	hsa-miR-588	CLIP-seq
MIRT1923720	hsa-miR-626	CLIP-seq
MIRT2165251	hsa-miR-182	CLIP-seq
MIRT758726	hsa-miR-3184	CLIP-seq
MIRT758735	hsa-miR-423-5p	CLIP-seq
MIRT758749	hsa-miR-4710	CLIP-seq
MIRT758752	hsa-miR-4792	CLIP-seq
MIRT758757	hsa-miR-583	CLIP-seq
MIRT2383757	hsa-miR-3199	CLIP-seq
MIRT2383758	hsa-miR-4515	CLIP-seq
MIRT2383759	hsa-miR-4651	CLIP-seq
MIRT1923715	hsa-miR-4652-5p	CLIP-seq
MIRT2383760	hsa-miR-608	CLIP-seq
MIRT758761	hsa-miR-637	CLIP-seq

115

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GO ID	Ontology	Definition	Evidence	Reference
GO:0000038	Process	Very long-chain fatty acid metabolic process	IDA	29397936
GO:0000038	Process	Very long-chain fatty acid metabolic process	IEA
GO:0000166	Function	Nucleotide binding	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	IEA
GO:0002082	Process	Regulation of oxidative phosphorylation	ISS
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	EXP	11500517
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IBA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IEA
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	IGI	18757502
GO:0005324	Function	Long-chain fatty acid transmembrane transporter activity	TAS
GO:0005515	Function	Protein binding	IPI	10551832, 10777694, 11883941, 17609205, 20531392
GO:0005524	Function	ATP binding	IBA
GO:0005524	Function	ATP binding	IDA	11248239, 16946495
GO:0005524	Function	ATP binding	IEA
GO:0005737	Component	Cytoplasm	IDA	17761426
GO:0005739	Component	Mitochondrion	IEA
GO:0005764	Component	Lysosome	IEA
GO:0005765	Component	Lysosomal membrane	IDA	16946495
GO:0005765	Component	Lysosomal membrane	IEA
GO:0005777	Component	Peroxisome	IDA	9425230, 10777694, 14533738, 17542813, 17761426, 18757502, 20810565
GO:0005777	Component	Peroxisome	IEA
GO:0005778	Component	Peroxisomal membrane	IBA
GO:0005778	Component	Peroxisomal membrane	IDA	10640429, 16946495, 17609205, 29397936
GO:0005778	Component	Peroxisomal membrane	IEA
GO:0005778	Component	Peroxisomal membrane	NAS	8441467
GO:0005778	Component	Peroxisomal membrane	TAS
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005789	Component	Endoplasmic reticulum membrane	IDA	16946495
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0005829	Component	Cytosol	TAS
GO:0006633	Process	Fatty acid biosynthetic process	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IBA
GO:0006635	Process	Fatty acid beta-oxidation	IDA	9425230, 17542813
GO:0006635	Process	Fatty acid beta-oxidation	IEA
GO:0006635	Process	Fatty acid beta-oxidation	IGI	18757502, 21145416
GO:0006635	Process	Fatty acid beta-oxidation	IMP	23671276
GO:0006636	Process	Unsaturated fatty acid biosynthetic process	IEA
GO:0007031	Process	Peroxisome organization	IBA
GO:0007031	Process	Peroxisome organization	IDA	9425230
GO:0007031	Process	Peroxisome organization	NAS	8441467
GO:0015605	Function	Organophosphate ester transmembrane transporter activity	IEA
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IDA	15682271
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IEA
GO:0015607	Function	ABC-type fatty-acyl-CoA transporter activity	IGI	18757502
GO:0015748	Process	Organophosphate ester transport	IEA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IBA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IEA
GO:0015910	Process	Long-chain fatty acid import into peroxisome	IGI	18757502
GO:0015916	Process	Fatty-acyl-CoA transport	IEA
GO:0015919	Process	Peroxisomal membrane transport	NAS	8441467
GO:0015931	Process	Nucleobase-containing compound transport	IEA
GO:0015932	Function	Nucleobase-containing compound transmembrane transporter activity	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IEA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IDA	11248239, 16946495, 33500543
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0019217	Process	Regulation of fatty acid metabolic process	IEA
GO:0019899	Function	Enzyme binding	IPI	16781659
GO:0030497	Process	Fatty acid elongation	IEA
GO:0030497	Process	Fatty acid elongation	ISS
GO:0031966	Component	Mitochondrial membrane	IDA	16946495
GO:0031966	Component	Mitochondrial membrane	IEA
GO:0031998	Process	Regulation of fatty acid beta-oxidation	IEA
GO:0031998	Process	Regulation of fatty acid beta-oxidation	ISS
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IEA
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	IMP	23123468
GO:0032000	Process	Positive regulation of fatty acid beta-oxidation	ISS
GO:0036109	Process	Alpha-linolenic acid metabolic process	IEA
GO:0036109	Process	Alpha-linolenic acid metabolic process	TAS
GO:0036113	Process	Very long-chain fatty-acyl-CoA catabolic process	IMP	23671276
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IBA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IDA	29397936
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	IEA
GO:0042626	Function	ATPase-coupled transmembrane transporter activity	NAS	8441467
GO:0042758	Process	Long-chain fatty acid catabolic process	IGI	18757502
GO:0042758	Process	Long-chain fatty acid catabolic process	IMP	23671276
GO:0042759	Process	Long-chain fatty acid biosynthetic process	IEA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IBA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IDA	9425230
GO:0042760	Process	Very long-chain fatty acid catabolic process	IEA
GO:0042760	Process	Very long-chain fatty acid catabolic process	IGI	18757502, 21145416
GO:0042802	Function	Identical protein binding	IPI	10551832
GO:0042803	Function	Protein homodimerization activity	IDA	17609205, 18757502, 21145416
GO:0042886	Process	Amide transport	IEA
GO:0042887	Function	Amide transmembrane transporter activity	IEA
GO:0043217	Process	Myelin maintenance	IEA
GO:0043217	Process	Myelin maintenance	ISS
GO:0043531	Function	ADP binding	IDA	16946495
GO:0043651	Process	Linoleic acid metabolic process	IEA
GO:0043651	Process	Linoleic acid metabolic process	TAS
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IDA	29397936, 33500543
GO:0047617	Function	Fatty acyl-CoA hydrolase activity	IEA
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	17761426
GO:0051900	Process	Regulation of mitochondrial depolarization	IEA
GO:0051900	Process	Regulation of mitochondrial depolarization	ISS
GO:0052817	Function	Very long-chain fatty acyl-CoA hydrolase activity	IEA
GO:0055085	Process	Transmembrane transport	IEA
GO:0055089	Process	Fatty acid homeostasis	IEA
GO:0055089	Process	Fatty acid homeostasis	ISS
GO:0055092	Process	Sterol homeostasis	IEA
GO:0055092	Process	Sterol homeostasis	ISS
GO:0140359	Function	ABC-type transporter activity	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	IEA
GO:1900016	Process	Negative regulation of cytokine production involved in inflammatory response	ISS
GO:1900407	Process	Regulation of cellular response to oxidative stress	IEA
GO:1900407	Process	Regulation of cellular response to oxidative stress	ISS
GO:1901570	Process	Fatty acid derivative biosynthetic process	IEA
GO:1901682	Function	Sulfur compound transmembrane transporter activity	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	IEA
GO:1903427	Process	Negative regulation of reactive oxygen species biosynthetic process	ISS
GO:1990535	Process	Neuron projection maintenance	IEA
GO:1990535	Process	Neuron projection maintenance	ISS
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	IEA
GO:2001280	Process	Positive regulation of unsaturated fatty acid biosynthetic process	ISS

MIM	HGNC	e!Ensembl
300371	61	ENSG00000101986

P33897

Protein name

ATP-binding cassette sub-family D member 1 (EC 3.1.2.-) (EC 7.6.2.-) (Adrenoleukodystrophy protein) (ALDP)

Protein function

ATP-dependent transporter of the ATP-binding cassette (ABC) family involved in the transport of very long chain fatty acid (VLCFA)-CoA from the cytosol to the peroxisome lumen (PubMed:11248239, PubMed:15682271, PubMed:16946495, PubMed:18757502,

PDB

7RR9 , 7RRA , 7SHM , 7SHN , 7VR1 , 7VWC , 7VX8 , 7VZB , 7X07 , 7X0T , 7X0Z , 7X1W , 7XEC , 7YRQ

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF06472	ABC_membrane_2	78 → 352	ABC transporter transmembrane region 2	Family
PF00005	ABC_tran	490 → 633	ABC transporter	Domain

Sequence

MPVLSRPRPWRGNTLKRTAVLLALAAYGAHKVYPLVRQCLAPARGLQAPAGEPTQEASGV
AAAKAGMNRVFLQRLLWLLRLLFPRVLCRETGLLALHSAALVSRTFLSVYVARLDGRLAR
CIVRKDPRAFGWQLLQWLLIALPATFVNSAIRYLEGQLALSFRSRLVAHAYRLYFSQQTY
YRVSNMDGRLRNPDQSLTEDVVAFAASVAHLYSNLTKPLLDVAVTSYTLLRAARSRGAGT
AWPSAIAGLVVFLTANVLRAFSPKFGELVAEEARRKGELRYMHSRVVANSEEIAFYGGHE
VELALLQRSYQDLASQINLILLERLWYVMLEQFLMKYVWSASGLLMVAVPIITATGYSES
DAEAVKKAALEKKEEELVSERTEAFTIARNLLTAAADAIERIMSSYKEVTELAGYTARVH
EMFQVFEDVQRCHFKRPRELEDAQAGSGTIGRSGVRVEGPLKIRGQVVDVEQGIICENIP
IVTPSGEVVVASLNIRVEEGMHLLITGPNGCGKSSLFRILGGLWPTYGGVLYKPPPQRMF
YIPQRPYMSVGSLRDQVIYPDSVEDMQRKGYSEQDLEAILDVVHLHHILQREGGWEAMCD
WKDVLSGGEKQRIGMARMFYHRPKYALLDECTSAVSIDVEGKIFQAAKDAGIALLSITHR
PSLWKYHTHLLQFDGEGGWKFEKLDSAARLSLTEEKQRLEQQLAGIPKMQRRLQELCQIL
GEAVAPAHVPAPSPQGPGGLQGAST

Sequence length

745

Interactions

View interactions

1530

Show/Hide Causal Diseases (16)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
ABCD1-related disorder	Pathogenic; Likely pathogenic	rs1057517954, rs2091705296, rs782603062, rs1557052294, rs713993050, rs201568579, rs150346282, rs128624221, rs387906494, rs886044777, rs2522264924, rs2522296936, rs2522276205, rs868911300, rs2522267128 View all (9 more)	RCV003402235 RCV004753460 RCV003892948 RCV004731257 RCV005867934 RCV004752757 RCV004730887 RCV003415686 RCV004752700 RCV003391027 RCV003412510 RCV003397575 RCV003392991 RCV003402836 RCV003983608 RCV003969153 RCV004730940 RCV003392323 RCV003407363 RCV003392549 RCV003392550 RCV004753011 RCV004752737 RCV004752738 RCV004731120
Abnormality of the nervous system	Likely pathogenic	rs2148395370	RCV001814562
Adrenoleukodystrophy	Pathogenic; Likely pathogenic	rs2091708688, rs2091749844, rs1603231784, rs2148389975, rs2148391889, rs2148396070, rs1603231653, rs2148389462, rs2148389592, rs2148389670, rs1204814114, rs2148389834, rs2148391974, rs782007706, rs2148397523 View all (310 more)	RCV001342918 RCV001340427 RCV001368455 RCV001379121 RCV001379281 RCV001377747 RCV001389072 RCV001390636 RCV001384967 RCV001385573 RCV001389361 RCV001380623 RCV001380273 RCV001385753 RCV001386788 RCV001385383 RCV001390826 RCV001386772 RCV001389342 RCV001382141 RCV001380654 RCV001526392 RCV001526996 RCV001553605 RCV003512119 RCV002570805 RCV002221634 RCV001724778 RCV005095121 RCV002541171 RCV003136152 RCV001885173 RCV003512134 RCV001885174 RCV001823692 RCV002046321 RCV002040642 RCV002017853 RCV002017882 RCV001878403 RCV001897900 RCV001950801 RCV001970107 RCV001950806 RCV001946695 RCV001982473 RCV001902392 RCV001972629 RCV001958819 RCV001874529 RCV002007465 RCV002009827 RCV001962893 RCV001951233 RCV002017025 RCV002028139 RCV001908964 RCV002031941 RCV001993926 RCV001892058 RCV002040878 RCV001909983 RCV001918693 RCV001920320 RCV002237198 RCV002248958 RCV002249220 RCV002251033 RCV002282796 RCV002290421 RCV000149556 RCV001203306 RCV000152721 RCV002296614 RCV002306581 RCV002306822 RCV002309619 RCV002310219 RCV002310523 RCV002308396 RCV004572278 RCV003100714 RCV003512178 RCV006262478 RCV002468727 RCV002468888 RCV002470648 RCV003066399 RCV003066400 RCV003066401 RCV003066402 RCV003066403 RCV003066404 RCV003066405 RCV003050673 RCV003050674 RCV003078940 RCV003079251 RCV000173051 RCV002516594 RCV000763198 RCV002569629 RCV002731061 RCV002741931 RCV002770187 RCV002834192 RCV002839526 RCV002837788 RCV002833472 RCV002880285 RCV002866777 RCV002875576 RCV002876439 RCV002876482 RCV002863587 RCV002886463 RCV002948127 RCV003005969 RCV000202647 RCV003043496 RCV003057893 RCV003048221 RCV003040508 RCV003123359 RCV003512192 RCV003150900 RCV003152947 RCV003227538 RCV000012044 RCV000012045 RCV000012046 RCV000012048 RCV000012049 RCV000012050 RCV000012051 RCV000012052 RCV000012053 RCV000012054 RCV000012055 RCV000012056 RCV000012057 RCV000012058 RCV000012059 RCV000012060 RCV000012061 RCV000180094 RCV000012064 RCV000012065 RCV000012066 RCV000012067 RCV000012068 RCV000012069 RCV000984141 RCV003230247 RCV003230788 RCV003236250 RCV003314491 RCV003315149 RCV003322678 RCV003323269 RCV003397179 RCV003464745 RCV003474058 RCV003474126 RCV003466469 RCV004545908 RCV005100324 RCV003779260 RCV003494087 RCV003512234 RCV003512877 RCV003512437 RCV003513195 RCV003513256 RCV003512999 RCV003513232 RCV003513336 RCV003513554 RCV003513742 RCV003513705 RCV003513706 RCV003513708 RCV003513709 RCV003513710 RCV003513711 RCV003513713 RCV003513714 RCV003513715 RCV003513719 RCV003513720 RCV003513721 RCV003513722 RCV003513723 RCV003513724 RCV003511600 RCV003511643 RCV003513752 RCV003511818 RCV003511842 RCV003511854 RCV003512602 RCV003512634 RCV003512800 RCV003625136 RCV003625282 RCV003625394 RCV003625417 RCV003625421 RCV003625488 RCV003625477 RCV003625603 RCV003625604 RCV003625652 RCV003625949 RCV003624099 RCV003881697 RCV003992863 RCV003991911 RCV004574512 RCV004574537 RCV001290674 RCV000699535 RCV000853230 RCV000633486 RCV000633477 RCV001800721 RCV000029284 RCV000029289 RCV000029290 RCV001377327 RCV000544041 RCV000547607 RCV000538578 RCV000552581 RCV000550301 RCV000530996 RCV000525103 RCV000548944 RCV000529139 RCV000536329 RCV000551222 RCV000532174 RCV000541276 RCV000578153 RCV000625957 RCV001243822 RCV001800831 RCV000633483 RCV000633481 RCV000633485 RCV000633478 RCV000633480 RCV000633482 RCV000633489 RCV000633492 RCV000633491 RCV000693896 RCV000700171 RCV000691168 RCV000699538 RCV000686459 RCV000699233 RCV000704173 RCV000710054 RCV000710055 RCV000710056 RCV000722143 RCV004768619 RCV000758243 RCV000761212 RCV000761213 RCV000761214 RCV000761215 RCV000761216 RCV000761217 RCV000761218 RCV000761219 RCV000787038 RCV000812852 RCV000812366 RCV000824204 RCV000813592 RCV000795935 RCV000807408 RCV000824100 RCV000807056 RCV000799162 RCV000793335 RCV000813291 RCV000796458 RCV000824353 RCV000816853 RCV000850151 RCV000850177 RCV000853228 RCV000853225 RCV000855404 RCV000856679 RCV000990973 RCV000990975 RCV000990976 RCV000990977 RCV000990978 RCV000990981 RCV000990982 RCV001800915 RCV001862753 RCV001055844 RCV001069371 RCV001070251 RCV001043120 RCV001041848 RCV001036486 RCV001041034 RCV001035149 RCV001055117 RCV001038533 RCV001060280 RCV001036673 RCV001041737 RCV001045481 RCV001089938 RCV001090088 RCV001093621 RCV001261538 RCV003235483 RCV001223136 RCV001219529 RCV001220804 RCV001225015 RCV001218447 RCV001223848 RCV001214145 RCV001213319 RCV001206383 RCV001204546 RCV001210435 RCV001218118 RCV001235837 RCV001237757 RCV001237662 RCV001235149 RCV001230399 RCV001230853 RCV001240692 RCV001253262 RCV001253401 RCV001253465 RCV001253021 RCV001253241 RCV001263478 RCV003512112 RCV001063464 RCV000077955 RCV000077958 RCV000808514 RCV002513814 RCV000077961 RCV002513815 RCV002515752 RCV001800384 RCV001290134 RCV001290372 RCV001306698
Ehlers-Danlos syndrome, kyphoscoliotic type 1	Likely pathogenic; Pathogenic	rs1557054873	RCV004541648
Encephalitis	Likely pathogenic	rs1557055311	RCV000626569
Episodic vomiting	Likely pathogenic	rs1557055311	RCV000626569
History of neurodevelopmental disorder	Likely pathogenic; Pathogenic	rs193922098	RCV000721083
Myocarditis	Likely pathogenic	rs1557055311	RCV000626569
Nonpapillary renal cell carcinoma	Likely pathogenic; Pathogenic	rs2091712381, rs201114595	RCV005911326 RCV005908876
Primary adrenocortical insufficiency	Pathogenic	rs128624225, rs2148399029	RCV000012062 RCV000012063
Recurrent fever	Likely pathogenic	rs1557055311	RCV000626569
Spastic gait	Likely pathogenic; Pathogenic	rs398123108	RCV000626568
Spastic paraplegia	Likely pathogenic; Pathogenic	rs398123108	RCV000626568
Thyroid cancer, nonmedullary, 1	Pathogenic; Likely pathogenic	rs2522288573, rs398123103	RCV005926833 RCV005886133
X-linked cerebral adrenoleukodystrophy	Likely pathogenic	rs2148388674	RCV002227846
X-linked spondyloepimetaphyseal dysplasia	Pathogenic; Likely pathogenic	rs128624218, rs128624224	RCV001358196 RCV001358358

Show/Hide Unknown Diseases (9)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs181218840	RCV005911527
Clear cell carcinoma of kidney	Conflicting classifications of pathogenicity	rs78993751	RCV005893620
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs199997983	RCV004559341
Familial cancer of breast	Benign	rs181218840	RCV005911526
Intellectual disability	Uncertain significance; Conflicting classifications of pathogenicity	rs782007706, rs782635828	RCV005626562 RCV000850212
Lung cancer	Conflicting classifications of pathogenicity	rs78993751	RCV005893621
Ovarian serous cystadenocarcinoma	Likely benign	rs193098717	RCV005918598
Peroxisome biogenesis disorder 2B	Uncertain significance	rs781951552	RCV002289118
See cases	Uncertain significance	rs1557052326, rs2148397529	RCV002253091 RCV002253167

Show/Hide Text Mining Associations (41)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Addison Disease	Associate	21264817, 32207279, 36175155, 36983033
Adrenal Gland Diseases	Associate	34445349
Adrenal Insufficiency	Associate	20228476, 31777199, 32207279
Adrenoleukodystrophy	Associate	10068511, 10068516, 11992258, 12065405, 17498713, 17602313, 17609205, 19787628, 20166112, 20228476, 20661612, 21264817, 21966424, 22045812, 22253809 View all (97 more)
Bipolar Disorder	Associate	40142297
Brain Diseases	Associate	22687851, 24719134
Carcinogenesis	Associate	19787628
Carcinoma Renal Cell	Inhibit	19787628
Carcinoma Renal Cell	Associate	38297313
Cerebral Arterial Diseases	Associate	23036268, 29136088
Cerebral Palsy	Associate	38245786
Cerebrovascular Disorders	Associate	31257461
Death	Associate	29794777
Demyelinating Autoimmune Diseases CNS	Associate	31526374, 37019892
Demyelinating Diseases	Associate	22914231, 29860501
Diabetes Mellitus Type 2	Associate	35634436
Gait Disorders Neurologic	Associate	34069712
Genetic Diseases Inborn	Associate	8876235
Heart Diseases	Associate	26607867
Infections	Associate	34524914
Infections	Inhibit	36085307
Inflammation	Associate	30544401, 32359032
Kidney Neoplasms	Inhibit	19787628
Leukodystrophy Metachromatic	Associate	36983033
Leukoencephalopathies	Associate	36380532, 37981684
Lysosomal Storage Diseases	Associate	40708026
Metabolic Syndrome	Associate	33472124
Movement Disorders	Associate	34069712
Muscle Weakness	Associate	34069712
Muscular Atrophy Spinal	Associate	31557422
Neoplasms	Associate	36042628
Nervous System Diseases	Associate	28976817
Neurodegenerative Diseases	Associate	17609205, 20228476, 26607867, 7597071
Neuroinflammatory Diseases	Associate	36528616
Peroxisomal Disorders	Associate	31257461
Peroxisome biogenesis disorders	Associate	11992258
Polyradiculoneuropathy Chronic Inflammatory Demyelinating	Associate	29136088, 36384734
Reflex Abnormal	Associate	34069712
Squamous Cell Carcinoma of Head and Neck	Associate	35634436
Virus Diseases	Associate	36085307
Vision Disorders	Associate	37981684

ABCD1 (ATP binding cassette subfamily D member 1)