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MCCC1

MCCC1
Identifiers
AliasesMCCC1, MCC-B, MCCA, methylcrotonoyl-CoA carboxylase 1, methylcrotonyl-CoA carboxylase subunit 1, MCCCalpha
External IDsOMIM: 609010; MGI: 1919289; GeneCards: MCCC1
Available structures
PDBOrtholog search: PDBe RCSB
Enzyme activity
EC #BRENDAExPASyKEGGMetaCyc
6.4.1.4↗↗↗↗
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

56922

72039

Ensembl

ENSG00000078070

ENSMUSG00000027709

UniProt

Q96RQ3

Q99MR8

RefSeq (mRNA)

NM_001293273
NM_020166
NM_001363880

NM_023644

RefSeq (protein)

NP_001280202
NP_064551
NP_001350809

NP_076133

Location (UCSC)Chr 3: 183.02 – 183.12 MbChr 3: 36.01 – 36.05 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Methylcrotonoyl-CoA carboxylase subunit alpha is an enzyme that in humans is encoded by the MCCC1 gene.

Function

MCCC1 encodes the α-subunit of the mitochondrial enzyme methylcrotonyl-CoA carboxylase (MCC), which catalyzes a key carboxylation step in the catabolic pathway of the branched-chain amino acid leucine. The MCC holoenzyme forms a dodecameric α6β6 complex in which MCCC1-derived α subunits contain the biotin-binding and carboxylation domains essential for enzymatic activity.[5]

Clinical significance

Pathogenic variants in MCCC1 cause 3-methylcrotonyl-CoA carboxylase deficiency, an autosomal recessive metabolic disorder characterized by impaired leucine degradation and accumulation of organic acid intermediates.[6][7]

Beyond its metabolic role, MCCC1 has been implicated in immune regulation, where it enhances antiviral signaling through MAVS-mediated activation of NF-κB and interferon pathways,[8] and in neurodegenerative disease genetics, with intronic variants such as rs12637471 associated with altered gene expression and Parkinson’s disease susceptibility.[9]

References

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000078070 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000027709 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ "MCCC1 gene". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. March 7, 2024. Retrieved October 20, 2025.
  6. ^ Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, et al. (February 2001). "The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency". The Journal of Clinical Investigation. 107 (4): 495–504. doi:10.1172/JCI11948. PMC 199271. PMID 11181649.
  7. ^ Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, et al. (May 2012). "3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals". Orphanet Journal of Rare Diseases. 7 31. doi:10.1186/1750-1172-7-31. PMC 3495011. PMID 22642865.
  8. ^ Cao Z, Xia Z, Zhou Y, Yang X, Hao H, Peng N, et al. (September 2016). "Methylcrotonoyl-CoA carboxylase 1 potentiates RLR-induced NF-κB signaling by targeting MAVS complex". Scientific Reports. 6 33557. Bibcode:2016NatSR...633557C. doi:10.1038/srep33557. PMC 5024325. PMID 27629939.
  9. ^ Sogabe S, Nakano H, Ogasahara Y, Cha PC, Ando Y, Taniguchi-Ikeda M, et al. (July 2025). "Regulation of MCCC1 expression by a Parkinson's disease-associated intronic variant: implications for pathogenesis". Journal of Human Genetics. 70 (7): 371–374. doi:10.1038/s10038-025-01335-z. PMC 12137145. PMID 40216992.

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