// Workers AI · dad joke modeWhat did MCCC1 say to its date? You're 1 in a million.
| MCCC1 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Identifiers | ||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aliases | MCCC1, MCC-B, MCCA, methylcrotonoyl-CoA carboxylase 1, methylcrotonyl-CoA carboxylase subunit 1, MCCCalpha | |||||||||||||||||||||||||||||||||||||||||||||||||||||
| External IDs | OMIM: 609010; MGI: 1919289; GeneCards: MCCC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||
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Methylcrotonoyl-CoA carboxylase subunit alpha is an enzyme that in humans is encoded by the MCCC1 gene.
Function
[edit]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
[edit]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
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000078070 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000027709 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "MCCC1 gene". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. March 7, 2024. Retrieved October 20, 2025.
- ↑ 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.
- ↑ 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.
- ↑ 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.
- ↑ 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.