Aliases for MCCC1 Gene
External Ids for MCCC1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for MCCC1 Gene
MCCC1 (Methylcrotonoyl-CoA Carboxylase 1 (Alpha)) is a Protein Coding gene. Diseases associated with MCCC1 include 3-methylcrotonyl-coa carboxylase deficiency and 3-methylcrotonyl-coa carboxylase 1 deficiency. Among its related pathways are Disease and Metabolism. GO annotations related to this gene include biotin carboxylase activity and methylcrotonoyl-CoA carboxylase activity. An important paralog of this gene is PCCA.
UniProtKB/Swiss-Prot for MCCC1 Gene
Biotin-attachment 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.