MCCC2 (methylcrotonyl-CoA carboxylase subunit 2)

2014-11-01  

Identity

HGNC
LOCATION
5q13.2
LOCUSID
ALIAS
MCCB,MCCCbeta
FUSION GENES

Other Information

Locus ID:

NCBI: 64087
MIM: 609014
HGNC: 6937
Ensembl: ENSG00000131844

Variants:

dbSNP: 64087
ClinVar: 64087
TCGA: ENSG00000131844
COSMIC: MCCC2

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000131844ENST00000340941Q9HCC0
ENSG00000131844ENST00000340941A0A140VK29
ENSG00000131844ENST00000509358D6RDF7
ENSG00000131844ENST00000509539D6RD67
ENSG00000131844ENST00000512218D6R9R1
ENSG00000131844ENST00000629193D6R9R1

Expression (GTEx)

0
10
20
30
40
50
60
70

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
208776242010Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.17
201983152010Association of genetic variants with hemorrhagic stroke in Japanese individuals.11
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
178768192008Crystal structure of the biotin carboxylase domain of human acetyl-CoA carboxylase 2.7
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
198512962010Assessment of a polymorphism of SDK1 with hypertension in Japanese Individuals.3

Citation

Dessen P

MCCC2 (methylcrotonyl-CoA carboxylase subunit 2)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/68840/mccc2