# MCCC1

> Mediated Wiki article. Canonical URL: https://mediated.wiki/source/MCCC1
> Markdown URL: https://mediated.wiki/source/MCCC1.md
> Source: https://en.wikipedia.org/wiki/MCCC1
> Source revision: 1317811438
> License: Creative Commons Attribution-ShareAlike 4.0 International (https://creativecommons.org/licenses/by-sa/4.0/)

**Methylcrotonoyl-CoA carboxylase subunit alpha** is an [enzyme](/source/Enzyme) that in humans is encoded by the **MCCC1** [gene](/source/Gene).

## Function

MCCC1 encodes the α-subunit of the [mitochondrial](/source/Mitochondrial) enzyme [methylcrotonyl-CoA carboxylase](/source/Methylcrotonyl-CoA_carboxylase) (MCC), which catalyzes a key [carboxylation](/source/Carboxylation) step in the [catabolic](/source/Catabolic) pathway of the branched-chain amino acid [leucine](/source/Leucine). The MCC [holoenzyme](/source/Holoenzyme) forms a dodecameric α6β6 complex in which MCCC1-derived α subunits contain the [biotin](/source/Biotin)-binding and carboxylation domains essential for enzymatic activity.[1]

## Clinical significance

Pathogenic variants in MCCC1 cause [3-methylcrotonyl-CoA carboxylase deficiency](/source/3-methylcrotonyl-CoA_carboxylase_deficiency), an [autosomal recessive](/source/Autosomal_recessive) metabolic disorder characterized by impaired leucine degradation and accumulation of organic acid intermediates.[2][3]

Beyond its metabolic role, MCCC1 has been implicated in immune regulation, where it enhances antiviral signaling through MAVS-mediated activation of [NF-κB](/source/NF-%CE%BAB) and [interferon](/source/Interferon) pathways,[4] and in neurodegenerative disease genetics, with [intronic](/source/Intronic) variants such as rs12637471 associated with altered gene expression and [Parkinson’s disease](/source/Parkinson%E2%80%99s_disease) susceptibility.[5]

## References

1. ["MCCC1 gene"](https://medlineplus.gov/genetics/gene/mccc1/). *MedlinePlus Genetics*. U.S. National Library of Medicine, National Institutes of Health. March 7, 2024. Retrieved October 20, 2025.

1. Baumgartner MR, Almashanu S, Suormala T, Obie C, Cole RN, Packman S, Baumgartner ER, Valle D (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](https://doi.org/10.1172/JCI11948). [PMC 199271](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC199271). [PMID 11181649](https://pubmed.ncbi.nlm.nih.gov/11181649)

1. Grünert SC, Stucki M, Morscher RJ, Suormala T, Bürer C, Burda P, Christensen E, Ficicioglu C, Herwig J, Kölker S, Möslinger D, Pasquini E, Santer R, Schwab KO, Wilcken B, Fowler B, Yue WW, Baumgartner MR (May 2012). "3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals". *Orphanet Journal of Rare Diseases*. **7**. [doi:10.1186/1750-1172-7-31](https://doi.org/10.1186/1750-1172-7-31). [PMC 3495011](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011). [PMID 22642865](https://pubmed.ncbi.nlm.nih.gov/22642865)

1. Cao Z, Xia Z, Zhou Y, Yang X, Hao H, Peng N, Liu S, Zhu Y (September 2016). "Methylcrotonoyl-CoA carboxylase 1 potentiates RLR-induced NF-κB signaling by targeting MAVS complex". *Scientific Reports*. **6**. [Bibcode:2016NatSR...633557C](https://ui.adsabs.harvard.edu/abs/2016NatSR...633557C). [doi:10.1038/srep33557](https://doi.org/10.1038/srep33557). [PMC 5024325](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024325). [PMID 27629939](https://pubmed.ncbi.nlm.nih.gov/27629939)

1. Sogabe S, Nakano H, Ogasahara Y, Cha PC, Ando Y, Taniguchi-Ikeda M, Matsumoto R, Kanagawa M, Kobayashi K, Murayama S, Aoi T, Toda T, Satake W (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](https://doi.org/10.1038/s10038-025-01335-z). [PMC 12137145](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137145). [PMID 40216992](https://pubmed.ncbi.nlm.nih.gov/40216992)

---
Adapted from the Wikipedia article [MCCC1](https://en.wikipedia.org/wiki/MCCC1) by Wikipedia contributors ([contributor history](https://en.wikipedia.org/wiki/MCCC1?action=history)). Available under [Creative Commons Attribution-ShareAlike 4.0 International](https://creativecommons.org/licenses/by-sa/4.0/). Changes may have been made.