Gene:
methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)
Gene ID:
197071
Symbol:
MCCC1
Species:
1000
Description:
This gene encodes the large 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.