Full name: propionyl-CoA carboxylase subunit alpha

Gene type: protein coding

RefSeq status: REVIEWED

Summary: 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]

Expression: Broad expression in kidney (RPKM 11.9), liver (RPKM 5.1) and 23 other tissues

Gene size: 441343bp

Exon count: 34