Aliases for MCCC2 Gene
External Ids for MCCC2 Gene
Previous GeneCards Identifiers for MCCC2 Gene
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, Jul 2008]
GeneCards Summary for MCCC2 Gene
MCCC2 (Methylcrotonoyl-CoA Carboxylase 2 (Beta)) is a Protein Coding gene. Diseases associated with MCCC2 include mccc2-related 3-methylcrotonyl-coa carboxylase deficiency and 3-methylcrotonyl-coa carboxylase 2 deficiency. Among its related pathways are Infectious disease and Metabolism. GO annotations related to this gene include ligase activity and methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCB.
UniProtKB/Swiss-Prot for MCCC2 Gene
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.