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ACADM (acyl-CoA dehydrogenase medium chain)

Gene

Acyl-CoA dehydrogenase medium chain

ACADM

ACAD1, MCAD, MCADH

1p31.1

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Show/Hide all(118)

SNP ID	Visualize variation	Clinical significance	Consequence
rs74090726	A>C	Benign, benign-likely-benign, risk-factor	Synonymous variant, coding sequence variant, intron variant
rs77931234	A>C,G	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, coding sequence variant
rs113887538	G>A,T	Likely-pathogenic	Intron variant, splice donor variant
rs121434274	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121434275	T>C	Pathogenic	Missense variant, coding sequence variant
rs121434276	T>C	Pathogenic	Missense variant, coding sequence variant
rs121434277	G>A,T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, intron variant, coding sequence variant
rs121434278	G>A	Pathogenic-likely-pathogenic, pathogenic	Missense variant, coding sequence variant
rs121434279	A>G	Pathogenic	Missense variant, coding sequence variant
rs121434280	T>C	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs121434281	C>T	Likely-pathogenic, pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs121434282	G>C	Pathogenic	Missense variant, coding sequence variant
rs121434283	C>T	Conflicting-interpretations-of-pathogenicity, pathogenic	Missense variant, intron variant, coding sequence variant
rs138098371	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Synonymous variant, coding sequence variant
rs143911981	C>T	Conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs147559466	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs148207467	C>A,T	Likely-pathogenic, pathogenic	Stop gained, synonymous variant, coding sequence variant
rs148260275	T>C	Pathogenic-likely-pathogenic	Splice donor variant
rs200754053	G>A,T	Uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs201375579	A>G	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs387906297	TTAG>-	Pathogenic	Coding sequence variant, frameshift variant
rs398123072	C>G,T	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs398123073	T>C,G	Pathogenic	Splice donor variant
rs398123074	T>C	Pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs398123075	G>A,C,T	Pathogenic, likely-pathogenic, uncertain-significance	Coding sequence variant, 5 prime UTR variant, missense variant
rs745844469	A>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, 5 prime UTR variant
rs746136472	T>C	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant, intron variant
rs747268471	G>A	Pathogenic-likely-pathogenic, uncertain-significance	Coding sequence variant, missense variant
rs747610156	G>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs748110745	G>T	Likely-pathogenic	Stop gained, coding sequence variant
rs749529577	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, intron variant
rs753928772	C>A,T	Uncertain-significance, pathogenic	Synonymous variant, coding sequence variant, stop gained
rs754359356	T>A,C	Conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant, missense variant
rs754833969	T>A,C	Pathogenic-likely-pathogenic	5 prime UTR variant, coding sequence variant, synonymous variant, stop gained
rs757434857	A>G	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant, 5 prime UTR variant
rs758753966	A>C	Pathogenic	Splice acceptor variant
rs759158371	T>A	Pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs759254037	G>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs760892123	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs761317029	A>G	Likely-pathogenic	Splice acceptor variant
rs762114560	C>T	Pathogenic-likely-pathogenic, pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs764942250	T>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs765793260	T>G	Pathogenic	Intron variant
rs766140986	C>T	Likely-pathogenic	Coding sequence variant, missense variant
rs766173642	CA>-,CACA	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs768884003	G>A	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs769331400	G>A	Pathogenic	Splice donor variant
rs773677327	A>G	Likely-pathogenic, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs777998984	G>-	Pathogenic	Coding sequence variant, frameshift variant, intron variant
rs778906552	G>A	Pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs779759347	G>C	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs780504551	A>T	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant
rs786204424	G>-	Pathogenic, conflicting-interpretations-of-pathogenicity	Splice donor variant, coding sequence variant, intron variant
rs786204566	->T	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs786204631	T>C	Likely-pathogenic	Missense variant, coding sequence variant
rs786204642	CTGA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs794727694	G>C	Pathogenic	Splice acceptor variant, intron variant
rs796051896	C>G,T	Pathogenic, uncertain-significance	Missense variant, coding sequence variant, stop gained
rs796051901	AG>-	Pathogenic	Coding sequence variant, frameshift variant
rs864621963	GGATGT>-	Pathogenic	Coding sequence variant, intron variant, inframe deletion
rs866388216	G>A	Likely-pathogenic	Splice donor variant
rs875989854	C>G,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant
rs875989857	AAG>-	Likely-pathogenic, uncertain-significance	Coding sequence variant, intron variant, inframe deletion
rs875989859	G>A	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, intron variant
rs875989860	AA>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs875989864	->T	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs875989867	A>G	Pathogenic	Missense variant, coding sequence variant
rs875989869	G>A	Pathogenic	Splice acceptor variant
rs875989872	GCAATGGGAGCTT>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs875989873	ATTA>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs875989874	->TAGAATGAGTTAC	Pathogenic	Coding sequence variant, stop gained, inframe indel
rs875989875	->GATTTAG	Pathogenic-likely-pathogenic	Coding sequence variant, intron variant, stop gained, inframe indel
rs875989876	T>C	Pathogenic	Missense variant, coding sequence variant, intron variant
rs875989877	->T	Pathogenic	Coding sequence variant, frameshift variant
rs878853106	G>A	Pathogenic	Splice donor variant
rs879234543	A>C,T	Likely-pathogenic	Splice acceptor variant
rs886042087	AAA>-,AA	Pathogenic, uncertain-significance	Frameshift variant, inframe deletion, intron variant, coding sequence variant
rs941714381	G>A	Likely-pathogenic	Splice acceptor variant
rs1057516278	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1057516463	C>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057516480	T>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057516485	C>A,T	Likely-pathogenic	Stop gained, missense variant, coding sequence variant
rs1057516564	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1057516801	G>T	Likely-pathogenic	Splice donor variant
rs1057516983	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant, intron variant
rs1057517103	AT>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057517179	AG>-	Likely-pathogenic	5 prime UTR variant, coding sequence variant, frameshift variant
rs1057517356	AGTA>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1057517411	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1057518408	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1057518677	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1057520214	A>C	Likely-pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs1057521114	A>G	Likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs1215335509	G>A,T	Likely-pathogenic	Coding sequence variant, missense variant, stop gained
rs1225471006	->TAGAATGAGTTAC	Pathogenic-likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs1227800781	A>G	Pathogenic	Coding sequence variant, missense variant
rs1319192670	T>-	Pathogenic	Frameshift variant, coding sequence variant, 5 prime UTR variant
rs1325949559	C>-	Pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1348176225	C>A,G	Likely-pathogenic	Coding sequence variant, missense variant
rs1462472677	A>G,T	Likely-pathogenic	Missense variant, coding sequence variant
rs1553122996	T>G	Likely-pathogenic	Splice donor variant
rs1553123071	->G	Likely-pathogenic, pathogenic	Intron variant, frameshift variant, coding sequence variant
rs1553123857	A>C	Likely-pathogenic	Splice acceptor variant
rs1553123871	GA>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, stop gained
rs1553125211	A>C	Likely-pathogenic	Splice acceptor variant
rs1553125264	GCT>CC	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1553127172	TTGAACTAGCTAGAATGAGTTA>-	Pathogenic	Frameshift variant, coding sequence variant
rs1553127216	A>C	Pathogenic	Coding sequence variant, missense variant
rs1553127378	G>C	Likely-pathogenic	Splice acceptor variant
rs1557446524	G>T	Likely-pathogenic	Intron variant, stop gained, coding sequence variant
rs1557457623	GTGACGGAGC>TTTAA	Pathogenic	Stop gained, coding sequence variant, inframe indel
rs1557458562	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1557466604	A>T	Likely-pathogenic	Coding sequence variant, missense variant
rs1570851702	C>T	Pathogenic	Coding sequence variant, stop gained, intron variant
rs1570861829	G>A	Pathogenic	Splice acceptor variant
rs1570866192	ATT>-	Pathogenic	Coding sequence variant, inframe deletion, intron variant
rs1570876467	T>C	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs1570891615	G>T	Likely-pathogenic	Coding sequence variant, stop gained

Show/Hide all(3)

miRTarBase ID	miRNA	Experiments	Reference
MIRT004953	hsa-miR-98-5p	qRT-PCR	17942906
MIRT021871	hsa-miR-128-3p	Microarray	17612493
MIRT028946	hsa-miR-26b-5p	Microarray	19088304

Show/Hide all(24)

GO ID	Ontology	Definition	Evidence	Reference
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IDA	19224950
GO:0003995	Function	Acyl-CoA dehydrogenase activity	IMP	2393404
GO:0005634	Component	Nucleus	HDA	21630459
GO:0005739	Component	Mitochondrion	IBA	21873635
GO:0005739	Component	Mitochondrion	IDA
GO:0005759	Component	Mitochondrial matrix	IDA	16020546
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0006635	Process	Fatty acid beta-oxidation	IBA	21873635
GO:0006635	Process	Fatty acid beta-oxidation	IMP	2393404
GO:0006635	Process	Fatty acid beta-oxidation	TAS
GO:0019216	Process	Regulation of lipid metabolic process	TAS
GO:0019254	Process	Carnitine metabolic process, CoA-linked	IMP	16972171
GO:0030424	Component	Axon	IDA	21237683
GO:0031966	Component	Mitochondrial membrane	IDA	16020546
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IDA	1902818, 3597357, 19224950, 25416781
GO:0033539	Process	Fatty acid beta-oxidation using acyl-CoA dehydrogenase	IMP	16972171
GO:0042802	Function	Identical protein binding	IDA	19224950
GO:0045329	Process	Carnitine biosynthetic process	IMP	16972171
GO:0050660	Function	Flavin adenine dinucleotide binding	IEA
GO:0051791	Process	Medium-chain fatty acid metabolic process	IDA	1970566
GO:0051793	Process	Medium-chain fatty acid catabolic process	IBA	21873635
GO:0051793	Process	Medium-chain fatty acid catabolic process	IDA	1970566
GO:0070991	Function	Medium-chain-acyl-CoA dehydrogenase activity	IBA	21873635
GO:0070991	Function	Medium-chain-acyl-CoA dehydrogenase activity	IDA	1902818, 1970566, 3597357, 19224950

MIM	HGNC	e!Ensembl
607008	89	ENSG00000117054

Protein

UniProt ID

P11310

Protein name

Medium-chain specific acyl-CoA dehydrogenase, mitochondrial (MCAD) (EC 1.3.8.7) (Medium chain acyl-CoA dehydrogenase) (MCADH)

Protein function

Medium-chain specific acyl-CoA dehydrogenase is one of the acyl-CoA dehydrogenases that catalyze the first step of mitochondrial fatty acid beta-oxidation, an aerobic process breaking down fatty acids into acetyl-CoA and allowing the production of energy from fats (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268). The first step of fatty acid beta-oxidation consists in the removal of one hydrogen from C-2 and C-3 of the straight-chain fatty acyl-CoA thioester, resulting in the formation of trans-2-enoyl-CoA (PubMed:2251268). Electron transfer flavoprotein (ETF) is the electron acceptor that transfers electrons to the main mitochondrial respiratory chain via ETF-ubiquinone oxidoreductase (ETF dehydrogenase) (PubMed:25416781, PubMed:15159392). Among the different mitochondrial acyl-CoA dehydrogenases, medium-chain specific acyl-CoA dehydrogenase acts specifically on acyl-CoAs with saturated 6 to 12 carbons long primary chains (PubMed:1970566, PubMed:8823175, PubMed:21237683, PubMed:2251268).

PDB

1EGC , 1EGD , 1EGE , 1T9G , 2A1T , 4P13

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF02771	Acyl-CoA_dh_N	42 → 152	Acyl-CoA dehydrogenase, N-terminal domain	Domain
PF02770	Acyl-CoA_dh_M	157 → 255	Acyl-CoA dehydrogenase, middle domain	Domain
PF00441	Acyl-CoA_dh_1	267 → 416	Acyl-CoA dehydrogenase, C-terminal domain	Domain

Sequence

MAAGFGRCCRVLRSISRFHWRSQHTKANRQREPGLGFSFEFTEQQKEFQATARKFAREEI
IPVAAEYDKTGEYPVPLIRRAWELGLMNTHIPENCGGLGLGTFDACLISEELAYGCTGVQ
TAIEGNSLGQMPIIIAGNDQQKKKYLGRMTEEPLMCAYCVTEPGAGSDVAGIKTKAEKKG
DEYIINGQKMWITNGGKANWYFLLARSDPDPKAPANKAFTGFIVEADTPGIQIGRKELNM
GQRCSDTRGIVFEDVKVPKENVLIGDGAGFKVAMGAFDKTRPVVAAGAVGLAQRALDEAT
KYALERKTFGKLLVEHQAISFMLAEMAMKVELARMSYQRAAWEVDSGRRNTYYASIAKAF
AGDIANQLATDAVQILGGNGFNTEYPVEKLMRDAKIYQIYEGTSQIQRLIVAREHIDKYK
N

Sequence length

421

Interactions

View interactions

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