Entrez gene ID | | 5095 |
Official gene symbol | | PCCA |
Full name | | propionyl CoA carboxylase, alpha polypeptide |
Aliases | | ,-, |
Gene 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. |
Location | | Chromosome: 13 Locus: 13q32 |
Gene position | | 100741269 - 101182691 Map Viewer |
Gene orientation | | plus |
Gene size | | 441423 bp |
Gene sequence |
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