MCCC2 (Q9HCC0) variants and mutations

MCCC2 (also known as Q9HCC0) is a human protein-coding gene encoding a methylcrotonoyl-CoA carboxylase beta chain, mitochondrial protein. It partners with MCCC1 to catalyze an essential carboxylation step in mitochondrial leucine catabolism. Biallelic pathogenic variants cause 3-methylcrotonyl-CoA carboxylase deficiency, which can produce hypoglycemia, acidosis, neurologic symptoms, or remain clinically mild. This analysis covers 940 MCCC2 variants and mutations. Of these, 78% have computational variant effect predictions. Disease context includes 3-methylcrotonyl-CoA carboxylase 2 deficiency, Isolated 3-methylcrotonyl-CoA carboxylase deficiency, and 3-methylcrotonyl-CoA carboxylase deficiency. Example MCCC2 variants include W2C, W2R, and W2G.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable MCCC2 variants

Examples include W2C, W2R, W2G, W2L, W2*, A3S, A3T, A3D. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.