MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)

2014-11-01  

Identity

HGNC
LOCATION
3q27.1
LOCUSID
ALIAS
MCC-B,MCCA,MCCCalpha
FUSION GENES

Other Information

Locus ID:

NCBI: 56922
MIM: 609010
HGNC: 6936
Ensembl: ENSG00000078070

Variants:

dbSNP: 56922
ClinVar: 56922
TCGA: ENSG00000078070
COSMIC: MCCC1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000078070ENST00000265594Q96RQ3
ENSG00000078070ENST00000265594A0A0S2Z693
ENSG00000078070ENST00000466650F2Z3E2
ENSG00000078070ENST00000476176E9PG35
ENSG00000078070ENST00000486226F8WDI3
ENSG00000078070ENST00000487634F2Z2Z7
ENSG00000078070ENST00000490284F8WF46
ENSG00000078070ENST00000492597E9PHF7
ENSG00000078070ENST00000495767F2Z2Z7
ENSG00000078070ENST00000497830F2Z3E2
ENSG00000078070ENST00000497959G5E9X5
ENSG00000078070ENST00000610757F5GYT8
ENSG00000078070ENST00000629669G5E9X5

Expression (GTEx)

0
5
10
15
20
25
30
35
40

Pathways

PathwaySourceExternal ID
Valine, leucine and isoleucine degradationKEGGko00280
Valine, leucine and isoleucine degradationKEGGhsa00280
Metabolic pathwaysKEGGhsa01100
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGhsa_M00036
Leucine degradation, leucine => acetoacetate + acetyl-CoAKEGGM00036
DiseaseREACTOMER-HSA-1643685
Diseases of metabolismREACTOMER-HSA-5668914
Defects in vitamin and cofactor metabolismREACTOMER-HSA-3296482
Defects in biotin (Btn) metabolismREACTOMER-HSA-3323169
Defective HLCS causes multiple carboxylase deficiencyREACTOMER-HSA-3371599
MetabolismREACTOMER-HSA-1430728
Metabolism of vitamins and cofactorsREACTOMER-HSA-196854
Metabolism of water-soluble vitamins and cofactorsREACTOMER-HSA-196849
Biotin transport and metabolismREACTOMER-HSA-196780
Metabolism of amino acids and derivativesREACTOMER-HSA-71291
Branched-chain amino acid catabolismREACTOMER-HSA-70895

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.62
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
222647722012A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.8
1601068320053-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.7
197066172009Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.7
269142372016Association of three candidate genetic variants in RAB7L1/NUCKS1, MCCC1 and STK39 with sporadic Parkinson's disease in Han Chinese.7
179684842007Novel mutations in five Japanese patients with 3-methylcrotonyl-CoA carboxylase deficiency.6
210712502011Novel mutations in the human MCCA and MCCB gene causing methylcrotonylglycinuria.5
253826142015Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.4
2760125720163-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening.4

Citation

Dessen P

MCCC1 (methylcrotonyl-CoA carboxylase subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68839/mccc1