Methylcrotonoyl CoA carboxylase beta chain mitochondrial
Methylcrotonoyl Coenzyme A carboxylase 2 (beta)
Methylcrotonoyl-CoA carboxylase beta chain
Non biotin containing subunit of 3 methylcrotonyl CoA carboxylase
Amino-acid degradation; L-leucine degradation; (S)-3-hydroxy-3-methylglutaryl-CoA from 3-isovaleryl-CoA: step 2/3.
Involvement in disease
Defects in MCCC2 are the cause of methylcrotonoyl-CoA carboxylase deficiency type 2 (MCC2 deficiency) [MIM:210210]. MCC2 deficiency is 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.
Belongs to the AccD/PCCB family. Contains 1 carboxyltransferase domain.