Aliases for PCCA Gene
External Ids for PCCA Gene
Previous GeneCards Identifiers for PCCA Gene
The protein encoded by this gene is the alpha subunit of the heterodimeric mitochondrial enzyme Propionyl-CoA carboxylase. PCCA encodes the biotin-binding region of this enzyme. Mutations in either PCCA or PCCB (encoding the beta subunit) lead to an enzyme deficiency resulting in propionic acidemia. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]
GeneCards Summary for PCCA Gene
PCCA (Propionyl-CoA Carboxylase Alpha Subunit) is a Protein Coding gene. Diseases associated with PCCA include Propionicacidemia and Pcca-Related Propionic Acidemia. Among its related pathways are Defects in biotin (Btn) metabolism and Diseases of metabolism. GO annotations related to this gene include enzyme binding and biotin carboxylase activity. An important paralog of this gene is MCCC1.