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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	56922
Gene name	Methylcrotonyl-CoA carboxylase subunit 1
Gene symbol	MCCC1
Synonyms (NCBI Gene)	MCC-BMCCAMCCCalpha
Chromosome	3
Chromosome location	3q27.1
Summary	This gene encodes the large subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrot

Show/Hide all (52)

SNP ID	Visualize variation	Clinical significance	Consequence
rs119103212	A>C	Pathogenic-likely-pathogenic, likely-pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103213	T>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103214	C>G	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs119103215	A>G	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103216	G>A	Pathogenic	Non coding transcript variant, missense variant, coding sequence variant
rs119103217	T>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant, genic downstream transcript variant
rs119103218	A>C	Pathogenic	Non coding transcript variant, missense variant, intron variant, coding sequence variant
rs138480247	G>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Genic downstream transcript variant, missense variant, non coding transcript variant, coding sequence variant
rs147741073	T>A,C	Pathogenic	Intron variant, stop gained, coding sequence variant, missense variant, non coding transcript variant
rs150862707	A>G,T	Pathogenic, likely-benign, benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs185741664	G>A	Pathogenic	Coding sequence variant, non coding transcript variant, stop gained
rs199517715	C>T	Pathogenic, uncertain-significance	Coding sequence variant, non coding transcript variant, missense variant, intron variant
rs199914879	A>T	Pathogenic	Splice donor variant
rs375996272	G>A	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124350	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs398124351	A>G	Likely-pathogenic	Missense variant, non coding transcript variant, coding sequence variant
rs398124353	G>T	Conflicting-interpretations-of-pathogenicity	Non coding transcript variant, coding sequence variant, intron variant, synonymous variant
rs544349961	G>A	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs727504001	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727504002	C>-	Pathogenic	Intron variant, coding sequence variant, non coding transcript variant, frameshift variant
rs727504005	C>T	Pathogenic	Splice acceptor variant
rs727504006	T>C	Pathogenic	Intron variant, splice acceptor variant
rs750484977	G>C	Pathogenic	Non coding transcript variant, coding sequence variant, stop gained
rs754460336	G>A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, intron variant, missense variant
rs760180709	T>C	Pathogenic	Intron variant, genic downstream transcript variant
rs762463137	->C	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs762463914	T>C	Likely-pathogenic	Genic upstream transcript variant, non coding transcript variant, missense variant, initiator codon variant, 5 prime UTR variant, upstream transcript variant
rs771730236	C>G	Likely-pathogenic	Splice donor variant, genic upstream transcript variant, upstream transcript variant
rs772010858	C>-	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, frameshift variant
rs772395858	T>C	Likely-pathogenic, pathogenic	Splice acceptor variant
rs776641008	TCATTCTACAGATGTCATGTGATTACCTTTTCA>-	Pathogenic, likely-pathogenic	Coding sequence variant, intron variant, genic downstream transcript variant, non coding transcript variant, splice donor variant
rs779412317	G>A	Pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs796051985	CA>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs796051986	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs886058209	CC>-	Conflicting-interpretations-of-pathogenicity, pathogenic	Splice acceptor variant, non coding transcript variant, coding sequence variant
rs905321122	C>A,G	Pathogenic	Non coding transcript variant, missense variant, stop gained, coding sequence variant, genic downstream transcript variant
rs920162850	G>A	Pathogenic	Coding sequence variant, intron variant, synonymous variant, stop gained, non coding transcript variant
rs1057520695	G>C	Pathogenic	Intron variant, missense variant, non coding transcript variant, coding sequence variant
rs1191868168	C>T	Likely-pathogenic	Splice acceptor variant
rs1212517901	T>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs1307589698	G>A,T	Uncertain-significance, likely-pathogenic	Intron variant, coding sequence variant, synonymous variant, missense variant, non coding transcript variant
rs1311374961	CT>-	Pathogenic	Intron variant, non coding transcript variant, frameshift variant, coding sequence variant
rs1337201010	C>G	Likely-pathogenic	Splice acceptor variant
rs1394547323	->T	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1484347924	G>A	Pathogenic	Stop gained, coding sequence variant, non coding transcript variant
rs1553850609	TTCGCTTTACTAGC>-	Pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1553856095	AT>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1553862845	C>A	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1560224024	GTACTCC>-	Pathogenic	Non coding transcript variant, frameshift variant, coding sequence variant
rs1560256569	TCTC>GCTATGCTAT	Pathogenic	Non coding transcript variant, stop gained, inframe indel, coding sequence variant
rs1577276144	->G	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant
rs1577328234	G>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant

Show/Hide all (40)

miRTarBase ID	miRNA	Experiments
MIRT1136549	hsa-miR-1253	CLIP-seq
MIRT1136550	hsa-miR-185	CLIP-seq
MIRT1136551	hsa-miR-193a-3p	CLIP-seq
MIRT1136552	hsa-miR-193b	CLIP-seq
MIRT1136553	hsa-miR-3117-5p	CLIP-seq
MIRT1136554	hsa-miR-3165	CLIP-seq
MIRT1136555	hsa-miR-3187-3p	CLIP-seq
MIRT1136556	hsa-miR-4306	CLIP-seq
MIRT1136557	hsa-miR-4529-5p	CLIP-seq
MIRT1136558	hsa-miR-4644	CLIP-seq
MIRT1136559	hsa-miR-502-5p	CLIP-seq
MIRT1136560	hsa-miR-582-3p	CLIP-seq
MIRT1136549	hsa-miR-1253	CLIP-seq
MIRT1136551	hsa-miR-193a-3p	CLIP-seq
MIRT1136552	hsa-miR-193b	CLIP-seq
MIRT1136553	hsa-miR-3117-5p	CLIP-seq
MIRT2038873	hsa-miR-3135b	CLIP-seq
MIRT1136555	hsa-miR-3187-3p	CLIP-seq
MIRT2038874	hsa-miR-320a	CLIP-seq
MIRT2038875	hsa-miR-320b	CLIP-seq
MIRT2038876	hsa-miR-320c	CLIP-seq
MIRT2038877	hsa-miR-320d	CLIP-seq
MIRT2038878	hsa-miR-320e	CLIP-seq
MIRT2038879	hsa-miR-3612	CLIP-seq
MIRT2038880	hsa-miR-4429	CLIP-seq
MIRT2038881	hsa-miR-4443	CLIP-seq
MIRT1136557	hsa-miR-4529-5p	CLIP-seq
MIRT1136560	hsa-miR-582-3p	CLIP-seq
MIRT2038882	hsa-miR-650	CLIP-seq
MIRT1136549	hsa-miR-1253	CLIP-seq
MIRT1136551	hsa-miR-193a-3p	CLIP-seq
MIRT1136552	hsa-miR-193b	CLIP-seq
MIRT1136553	hsa-miR-3117-5p	CLIP-seq
MIRT1136555	hsa-miR-3187-3p	CLIP-seq
MIRT2268858	hsa-miR-4291	CLIP-seq
MIRT2268859	hsa-miR-4310	CLIP-seq
MIRT1136557	hsa-miR-4529-5p	CLIP-seq
MIRT2268860	hsa-miR-4666-3p	CLIP-seq
MIRT1136559	hsa-miR-502-5p	CLIP-seq
MIRT1136560	hsa-miR-582-3p	CLIP-seq

Show/Hide all (29)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000166	Function	Nucleotide binding	IEA
GO:0004075	Function	Biotin carboxylase activity	NAS	22869039
GO:0004485	Function	Methylcrotonoyl-CoA carboxylase activity	IBA
GO:0004485	Function	Methylcrotonoyl-CoA carboxylase activity	IDA	17360195
GO:0004485	Function	Methylcrotonoyl-CoA carboxylase activity	IEA
GO:0004485	Function	Methylcrotonoyl-CoA carboxylase activity	NAS	11170888, 11181649, 11401427
GO:0005515	Function	Protein binding	IPI	17360195, 27499296, 28514442, 33961781
GO:0005524	Function	ATP binding	IEA
GO:0005739	Component	Mitochondrion	HTP	34800366
GO:0005739	Component	Mitochondrion	IBA
GO:0005739	Component	Mitochondrion	IDA
GO:0005739	Component	Mitochondrion	IEA
GO:0005759	Component	Mitochondrial matrix	IDA	16023992, 17360195
GO:0005759	Component	Mitochondrial matrix	IEA
GO:0005759	Component	Mitochondrial matrix	NAS	11170888
GO:0005759	Component	Mitochondrial matrix	TAS
GO:0005829	Component	Cytosol	TAS
GO:0006552	Process	L-leucine catabolic process	IEA
GO:0006552	Process	L-leucine catabolic process	ISS	11170888
GO:0006552	Process	L-leucine catabolic process	NAS	11170888
GO:0006768	Process	Biotin metabolic process	NAS	11401427, 22869039
GO:0009083	Process	Branched-chain amino acid catabolic process	NAS	17360195
GO:0009374	Function	Biotin binding	NAS	11401427
GO:0016874	Function	Ligase activity	IEA
GO:0046872	Function	Metal ion binding	IEA
GO:1905202	Component	Methylcrotonoyl-CoA carboxylase complex	IDA	17360195
GO:1905202	Component	Methylcrotonoyl-CoA carboxylase complex	IPI	17360195
GO:1905202	Component	Methylcrotonoyl-CoA carboxylase complex	NAS	11170888, 11181649, 11401427
GO:1905202	Component	Methylcrotonoyl-CoA carboxylase complex	TAS	22869039

MIM	HGNC	e!Ensembl
609010	6936	ENSG00000078070

Q96RQ3

Protein name

Methylcrotonoyl-CoA carboxylase subunit alpha, mitochondrial (MCCase subunit alpha) (EC 6.4.1.4) (3-methylcrotonyl-CoA carboxylase 1) (3-methylcrotonyl-CoA carboxylase biotin-containing subunit) (3-methylcrotonyl-CoA:carbon dioxide ligase subunit alpha)

Protein function

Biotin-attachment subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism. {ECO:0000269|PubMed:1736019

PDB

2EJM , 8J4Z , 8J78 , 8J7D , 8J99 , 8JAK , 8JAW , 8JXL , 8JXM , 8JXN , 8K2V , 8XL6 , 8XL7 , 8XL8

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00289	Biotin_carb_N	48 → 157	Biotin carboxylase, N-terminal domain	Domain
PF02786	CPSase_L_D2	163 → 371	Carbamoyl-phosphate synthase L chain, ATP binding domain	Domain
PF02785	Biotin_carb_C	383 → 491	Biotin carboxylase C-terminal domain	Domain
PF00364	Biotin_lipoyl	650 → 714	Biotin-requiring enzyme	Domain

Sequence

MAAASAVSVLLVAAERNRWHRLPSLLLPPRTWVWRQRTMKYTTATGRNITKVLIANRGEI
ACRVMRTAKKLGVQTVAVYSEADRNSMHVDMADEAYSIGPAPSQQSYLSMEKIIQVAKTS
AAQAIHPGCGFLSENMEFAELCKQEGIIFIGPPPSAIRDMGIKSTSKSIMAAAGVPVVEG
YHGEDQSDQCLKEHARRIGYPVMIKAVRGGGGKGMRIVRSEQEFQEQLESARREAKKSFN
DDAMLIEKFVDTPRHVEVQVFGDHHGNAVYLFERDCSVQRRHQKIIEEAPAPGIKSEVRK
KLGEAAVRAAKAVNYVGAGTVEFIMDSKHNFCFMEMNTRLQVEHPVTEMITGTDLVEWQL
RIAAGEKIPLSQEEITLQGHAFEARIYAEDPSNNFMPVAGPLVHLSTPRADPSTRIETGV
RQGDEVSVHYDPMIAKLVVWAADRQAALTKLRYSLRQYNIVGLHTNIDFLLNLSGHPEFE
AGNVHTDFIPQHHKQLLLSRKAAAKESLCQAALGLILKEKAMTDTFTLQAHDQFSPFSSS
SGRRLNISYTRNMTLKDGKNNVAIAVTYNHDGSYSMQIEDKTFQVLGNLYSEGDCTYLKC
SVNGVASKAKLIILENTIYLFSKEGSIEIDIPVPKYLSSVSSQETQGGPLAPMTGTIEKV
FVKAGDKVKAGDSLMVMIAMKMEHTIKSPKDGTVKKVFYREGAQANRHTPLVEFEEEESD
KRESE

Sequence length

725

Interactions

View interactions

	KEGG		Reactome
	Valine, leucine and isoleucine degradation Metabolic pathways		Biotin transport and metabolism Defective HLCS causes multiple carboxylase deficiency Branched-chain amino acid catabolism

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (6)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
3-methylcrotonyl-CoA carboxylase 1 deficiency	Likely pathogenic; Pathogenic	rs398124350, rs768630906, rs776254500, rs2108474093, rs2108479136, rs2108505736, rs2108526541, rs1163620394, rs2108569910, rs1000891879, rs2108441527, rs2108478897, rs2108528645, rs2108437770, rs1486240538 View all (149 more)	RCV000803322 RCV001378210 RCV001377562 RCV001385129 RCV001387388 View all (163 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Cervical cancer	Likely pathogenic	rs763877330	RCV005913572	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
MCCC1-related disorder	Likely pathogenic; Pathogenic	rs776254500, rs2108479136, rs1333994006, rs119103217, rs727504005, rs185741664, rs2530057605, rs746500530, rs762463914, rs1394547323, rs1560224024, rs771730236	RCV004746362 RCV004746363 RCV003402023 RCV003390633 RCV003416001 View all (7 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylcrotonyl-CoA carboxylase deficiency	Likely pathogenic; Pathogenic	rs1000891879, rs119103212, rs119103213, rs119103217, rs727504001, rs727504002, rs1012193526, rs544349961, rs772395858, rs768785753, rs185741664, rs886058209, rs199914879, rs764744442, rs746500530 View all (4 more)	RCV004587179 RCV000614611 RCV001275509 RCV001273490 RCV002509256 View all (14 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Nonpapillary renal cell carcinoma	Likely pathogenic	rs2530461749	RCV005932023	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ovarian serous cystadenocarcinoma	Likely pathogenic	rs2108446715	RCV005928622	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (10)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
3-METHYLCROTONYL-COA CARBOXYLASE DEFICIENCY	—	GWAS catalog, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute myeloid leukemia	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEWY BODY DEMENTIA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of urinary bladder	Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PARKINSON DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (24)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	CLINGEN_DG	11170888, 11406611, 25382614, 27601257		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	CLINVAR_DG	11170888, 11181649, 14680978, 15359379, 16010683, 16835865, 22264772, 22642865, 24078573, 25356967, 27601257		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	UNIPROT_DG	11170888, 11181649, 11406611, 16010683, 17968484, 21071250, 22150417, 22264772, 22642865, 25382614, 27601257		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	BEFREE	16835865, 22264772, 27417235		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	ORPHANET_DG	22264772, 22642865		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	GENOMICS_ENGLAND_DG	24816252		★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylcrotonyl CoA carboxylase 1 deficiency	3-methylcrotonyl CoA carboxylase deficiency	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
3-methylcrotonyl-CoA carboxylase deficiency	3-methylcrotonyl CoA carboxylase deficiency	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Acute hepatic steatosis	Hepatic steatosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	25230976	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	27193597	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoglycemia	Hypoglycemia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Insulin Resistance	Diabetes mellitus, type 2	Pubtator	29986096	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ketonuria	Ketonuria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Methylcrotonyl-CoA carboxylase deficiency	Methylcrotonyl-CoA Carboxylase Deficiency	CLINVAR_DG	11170888, 25356967		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Methylcrotonyl-CoA carboxylase deficiency	Methylcrotonyl-CoA Carboxylase Deficiency	BEFREE	16835865, 22264772, 27417235		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Movement Disorders	Movement Disorders	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Parkinson Disease	Parkinson disease	GWASCAT_DG	21292315, 21738487, 25064009, 28011712, 28892059		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	GWASDB_DG	21292315, 21738487, 22438815, 22451204		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	Pubtator	21812969, 30957308, 33436766, 40216992	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Parkinson Disease	Parkinson disease	BEFREE	23496138, 24312176, 24631562, 26601739, 26738859, 26914237, 28011712		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PEROXISOME BIOGENESIS DISORDER, COMPLEMENTATION GROUP A	Zellweger Syndrome	BEFREE	11170888		★★★★★ ★☆☆☆☆ Found in Text Mining only

MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)