// Workers AI · dad joke modeWhy was MCCC2 happy? It had 2 Cs to count on.

MCCC2
Identifiers
Aliases	MCCC2, MCCB, methylcrotonoyl-CoA carboxylase 2, MCCCbeta, methylcrotonyl-CoA carboxylase subunit 2
External IDs	OMIM: 609014; MGI: 1925288; HomoloGene: 11145; GeneCards: MCCC2; OMA:MCCC2 - orthologs
Enzyme activity
Gene location (Human)
Chr.	Chromosome 5 (human)
End	71,658,706 bp
Gene location (Mouse)
Chr.	Chromosome 13 (mouse)
End	100,152,147 bp
RNA expression pattern
	Top expressed in
	myocardium of left ventricle; ; right adrenal cortex; ; secondary oocyte; ; right lobe of liver; ; left adrenal gland; ; right ventricle; ; rectum; ; left adrenal cortex; ; apex of heart; ; corpus epididymis;
	Top expressed in
	proximal tubule; ; right kidney; ; interventricular septum; ; medullary collecting duct; ; brown adipose tissue; ; myocardium of ventricle; ; left lobe of liver; ; renal corpuscle; ; parotid gland; ; blastocyst;
	More reference expression data
	n/a
Gene ontology
Molecular function	nucleotide binding; methylcrotonoyl-CoA carboxylase activity; ligase activity; protein binding; ATP binding;
Cellular component	cytosol; mitochondrion; methylcrotonoyl-CoA carboxylase complex; 3-methylcrotonyl-CoA carboxylase complex, mitochondrial; mitochondrial matrix;
Biological process	leucine catabolic process; biotin metabolic process; coenzyme A metabolic process; protein heterooligomerization; branched-chain amino acid catabolic process;
	Sources:Amigo / QuickGO
Orthologs
	64087
	78038
	ENSG00000131844; ENSG00000281742; ENSG00000275300
	ENSMUSG00000021646
	Q9HCC0
	Q3ULD5
	NM_022132; NM_001363147
	NM_030026
	NP_071415; NP_001350076
	NP_084302
	Wikidata
View/Edit Human	View/Edit Mouse

Methylcrotonoyl-CoA carboxylase subunit beta is an enzyme that in humans is encoded by the MCCC2 gene.^[5]

Function

MCCC2 encodes the β-subunit of the mitochondrial enzyme methylcrotonoyl-CoA carboxylase (MCC), which catalyzes the biotin-dependent carboxylation of 3-methylcrotonoyl-CoA to 3-methylglutaconyl-CoA in the catabolic pathway of the branched-chain amino acid leucine. The β-subunit encoded by MCCC2 contains the carboxyltransferase domain that forms active sites at the interface of β-subunit dimers within the MCC α6β6 holoenzyme.^[6]

Clinical significance

Pathogenic variants in MCCC2 cause 3-methylcrotonyl-CoA carboxylase deficiency, an autosomal recessive inborn error of leucine metabolism that can manifest with metabolic acidosis, developmental delay, or remain clinically asymptomatic.^[7]^[8]^[9]^[10] Beyond its metabolic role, MCCC2 has been implicated in tumorigenesis through modulation of mitochondrial dynamics, apoptosis, and energy metabolism, promoting cell proliferation and migration in prostate and colorectal cancers^[11] via pathways such as GLUD1–p38 MAPK signaling.^[12]

References

1 2 3 ENSG00000281742, ENSG00000275300 GRCh38: Ensembl release 89: ENSG00000131844, ENSG00000281742, ENSG00000275300 – Ensembl, May 2017
1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021646 – 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.
↑ "MCCC2 gene: MedlinePlus Genetics". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. Retrieved October 20, 2025.
↑ Plaza-Pegueroles A, Aphasizheva I, Aphasizhev R, Fernández-Tornero C, Ruiz FM (July 2024). "The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into its enzymatic function". Structure. 32 (7): 930–940.e3. doi:10.1016/j.str.2024.03.010. PMC 11246232. PMID 38593794.
↑ 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.
↑ "3-methylcrotonyl-CoA carboxylase deficiency". Orphanet. INSERM US14, Université de Lyon, France. Retrieved October 20, 2025.
↑ "3-methylcrotonyl-CoA carboxylase deficiency – MedlinePlus Genetics". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. October 1, 2008. 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.
↑ Liu W, Chen S, Xie W, Wang Q, Luo Q, Huang M, et al. (October 2023). "MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer". Cellular & Molecular Biology Letters. 28 (1) 80. doi:10.1186/s11658-023-00487-0. PMC 10571261. PMID 37828426.
↑ He J, Mao Y, Huang W, Li M, Zhang H, Qing Y, et al. (2020). "Methylcrotonoyl-CoA Carboxylase 2 Promotes Proliferation, Migration and Invasion and Inhibits Apoptosis of Prostate Cancer Cells Through Regulating GLUD1-P38 MAPK Signaling Pathway". OncoTargets and Therapy. 13: 7317–7327. doi:10.2147/OTT.S249906. PMC 7395692. PMID 32801758.

[refGRCh38Ensembl-1] 1 2 3 ENSG00000281742, ENSG00000275300 GRCh38: Ensembl release 89: ENSG00000131844, ENSG00000281742, ENSG00000275300 – Ensembl, May 2017

[refGRCm38Ensembl-2] 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000021646 – 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] "MCCC2 gene: MedlinePlus Genetics". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. Retrieved October 20, 2025.

[PlazaPegueroles_2024-6] Plaza-Pegueroles A, Aphasizheva I, Aphasizhev R, Fernández-Tornero C, Ruiz FM (July 2024). "The cryo-EM structure of trypanosome 3-methylcrotonyl-CoA carboxylase provides mechanistic and dynamic insights into its enzymatic function". Structure. 32 (7): 930–940.e3. doi:10.1016/j.str.2024.03.010. PMC 11246232. PMID 38593794.

[Grunert_2012-7] 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] "3-methylcrotonyl-CoA carboxylase deficiency". Orphanet. INSERM US14, Université de Lyon, France. Retrieved October 20, 2025.

[9] "3-methylcrotonyl-CoA carboxylase deficiency – MedlinePlus Genetics". MedlinePlus Genetics. U.S. National Library of Medicine, National Institutes of Health. October 1, 2008. Retrieved October 20, 2025.

[Baumgartner_2001-10] 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.

[Liu_2023-11] Liu W, Chen S, Xie W, Wang Q, Luo Q, Huang M, et al. (October 2023). "MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer". Cellular & Molecular Biology Letters. 28 (1) 80. doi:10.1186/s11658-023-00487-0. PMC 10571261. PMID 37828426.

[He_2020-12] He J, Mao Y, Huang W, Li M, Zhang H, Qing Y, et al. (2020). "Methylcrotonoyl-CoA Carboxylase 2 Promotes Proliferation, Migration and Invasion and Inhibits Apoptosis of Prostate Cancer Cells Through Regulating GLUD1-P38 MAPK Signaling Pathway". OncoTargets and Therapy. 13: 7317–7327. doi:10.2147/OTT.S249906. PMC 7395692. PMID 32801758.

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// Workers AI · dad joke modeWhy was MCCC2 happy? It had 2 Cs to count on.

Function

Clinical significance

References