MCCC2

This gene encodes the small subunit of 3-methylcrotonyl-CoA carboxylase. This enzyme functions as a heterodimer and catalyzes the carboxylation of 3-methylcrotonyl-CoA to form 3-methylglutaconyl-CoA. Mutations in this gene are associated with 3-Methylcrotonylglycinuria, an autosomal recessive disorder of leucine catabolism. [provided by RefSeq]

Full Name

methylcrotonoyl-Coenzyme A carboxylase 2 (beta)

Function

Carboxyltransferase subunit of the 3-methylcrotonyl-CoA carboxylase, an enzyme that catalyzes the conversion of 3-methylcrotonyl-CoA to 3-methylglutaconyl-CoA, a critical step for leucine and isovaleric acid catabolism.

Biological Process

Branched-chain amino acid catabolic process Source: ComplexPortal
Coenzyme A metabolic process Source: Ensembl
Leucine catabolic process Source: GO_Central

Cellular Location

Mitochondrion matrix

Involvement in disease

3-methylcrotonoyl-CoA carboxylase 2 deficiency (MCC2D):
An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.