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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MCCC2
methylcrotonyl-CoA carboxylase subunit 2
Chromosome 5 · 5q13.2
NCBI Gene: 64087Ensembl: ENSG00000131844.17HGNC: HGNC:6937UniProt: A0A140VK29
139PubMed Papers
21Diseases
0Drugs
197Pathogenic Variants
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
mitochondrionmitochondrial matrixprotein bindingL-leucine catabolic process3-methylcrotonyl-CoA carboxylase 2 deficiencyIsolated 3-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonyl-CoA carboxylase deficiencygenetic disorder
✦AI Summary

MCCC2 encodes the β-subunit of 3-methylcrotonyl-CoA carboxylase (MCC), a mitochondrial enzyme catalyzing the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine and isovaleric acid catabolism 1. This enzymatic step is essential for branched-chain amino acid metabolism in the mitochondrial matrix. Losses-of-function mutations in MCCC2 cause 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD), an autosomal recessive disorder with highly variable penetrance 1. While 57% of identified patients remain asymptomatic with normal development 2, approximately 5% present acute metabolic decompensations resembling classical organic acidurias 1. Beyond metabolic catabolism, emerging evidence reveals MCCC2's role in cancer progression and cellular metabolism. MCCC2 functions as a hypoxic metabolic regulator; mitochondrial VHL inhibits MCCC2 under hypoxia, allowing leucine accumulation to activate glutaminolysis and support tumor growth 3. In colorectal cancer, MCCC2 mediates interactions between mitochondria and telomeres, with elevated expression correlating with poorer prognosis 45. MCCC2 also promotes glioblastoma and gastric cancer progression through ERK/MAPK pathway activation and aerobic glycolysis enhancement 67. SIRT4-mediated MCCC2 deacetylation enhances acetyl-CoA production, supporting hepatocellular carcinoma stemness 8. These findings establish MCCC2 as a dual-function protein linking leucine catabolism to oncogenic metabolic reprogramming.

Sources cited
1
MCCC2 encodes the β-subunit of 3-methylcrotonyl-CoA carboxylase (MCC), a mitochondrial enzyme catalyzing the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA during leucine and isovaleric acid catabolism .
PMID: 22642865
2
While 57% of identified patients remain asymptomatic with normal development , approximately 5% present acute metabolic decompensations resembling classical organic acidurias .
PMID: 36822454
3
MCCC2 functions as a hypoxic metabolic regulator; mitochondrial VHL inhibits MCCC2 under hypoxia, allowing leucine accumulation to activate glutaminolysis and support tumor growth .
PMID: 41435818
4
SIRT4-mediated MCCC2 deacetylation enhances acetyl-CoA production, supporting hepatocellular carcinoma stemness .
PMID: 40384857
⚠Limited data available — This gene has 4 indexed publications. Summary and analysis may be incomplete.
Disease Associationsⓘ21
3-methylcrotonyl-CoA carboxylase 2 deficiencyOpen Targets
0.84Strong
Isolated 3-methylcrotonyl-CoA carboxylase deficiencyOpen Targets
0.83Strong
3-methylcrotonyl-CoA carboxylase deficiencyOpen Targets
0.71Strong
genetic disorderOpen Targets
0.49Moderate
autism spectrum disorderOpen Targets
0.33Weak
spinal muscular atrophy, type IVOpen Targets
0.33Weak
Alzheimer diseaseOpen Targets
0.25Weak
lysosomal storage diseaseOpen Targets
0.25Weak
multiple sclerosisOpen Targets
0.25Weak
neurodegenerative diseaseOpen Targets
0.25Weak
Parkinson diseaseOpen Targets
0.25Weak
psoriatic arthritisOpen Targets
0.09Suggestive
hepatocellular carcinomaOpen Targets
0.08Suggestive
posterior cortical atrophyOpen Targets
0.08Suggestive
obesityOpen Targets
0.08Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
neoplasmOpen Targets
0.06Suggestive
primary familial polycythemia due to EPO receptor mutationOpen Targets
0.05Suggestive
Hereditary persistence of fetal hemoglobin - beta-thalassemiaOpen Targets
0.05Suggestive
hemoglobin D diseaseOpen Targets
0.05Suggestive
3-methylcrotonoyl-CoA carboxylase 2 deficiencyUniProt
Pathogenic Variants197
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency|See cases|Inborn genetic diseases|MCCC2-related disorder
★★☆☆2026→ Residue 339
NM_022132.5(MCCC2):c.512-1G>APathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2026
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 99
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency|Inborn genetic diseases|MCCC2-related disorder
★★☆☆2026→ Residue 355
NM_022132.5(MCCC2):c.625-1G>ALikely pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2026
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency|Nonpapillary renal cell carcinoma
★★☆☆2026→ Residue 403
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2026→ Residue 155
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 155
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2026→ Residue 193
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 72
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 34
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Inborn genetic diseases|not provided|Methylcrotonyl-CoA carboxylase deficiency|MCCC2-related disorder
★★☆☆2025→ Residue 475
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency|MCCC2-related disorder
★★☆☆2025→ Residue 564
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|Methylcrotonyl-CoA carboxylase deficiency
★★☆☆2025→ Residue 61
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 180
NM_022132.5(MCCC2):c.1488+2T>ALikely pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|MCCC2-related disorder
★★☆☆2025→ Residue 59
NM_022132.5(MCCC2):c.739delPathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs)Pathogenic
not provided|3-methylcrotonyl-CoA carboxylase 2 deficiency
★★☆☆2025→ Residue 471
NM_022132.5(MCCC2):c.351_353del (p.Gly118del)Pathogenic
3-methylcrotonyl-CoA carboxylase 2 deficiency|not provided
★★☆☆2025→ Residue 118
View on ClinVar ↗
Related Genes
AUHProtein interaction100%HLCSProtein interaction100%HMGCLProtein interaction100%MCCProtein interaction100%PDHBProtein interaction100%ACADSProtein interaction98%
Tissue Expression6 tissues
Liver
100%
Heart
97%
Ovary
21%
Brain
20%
Lung
20%
Bone Marrow
10%
Gene Interaction Network
Click a node to explore
MCCC2AUHHLCSHMGCLMCCPDHBACADS
PROTEIN STRUCTURE
Preparing viewer…
PDB8XL6 · 2.29 Å · EM
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.83LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.65 [0.52–0.83]
RankingsWhere MCCC2 stands among ~20K protein-coding genes
  • #3,313of 20,598
    Most Researched139 · top quartile
  • #348of 5,498
    Most Pathogenic Variants197 · top 10%
  • #7,105of 17,882
    Most Constrained (LOEUF)0.83
Genes detectedMCCC2
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.
PMID: 22642865
Orphanet J Rare Dis · 2012
1.00
2
Mitochondrial VHL rewires cell metabolism in hypoxia.
PMID: 41435818
Cell Metab · 2026
0.90
3
MCCC2 is a novel mediator between mitochondria and telomere and functions as an oncogene in colorectal cancer.
PMID: 37828426
Cell Mol Biol Lett · 2023
0.80
4
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.
PMID: 36822454
Clin Chim Acta · 2023
0.70
5
ECHDC2 inhibits the proliferation of gastric cancer cells by binding with NEDD4 to degrade MCCC2 and reduce aerobic glycolysis.
PMID: 38783226
Mol Med · 2024
0.60