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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.
Gene Name: | propionyl CoA carboxylase, alpha polypeptide |
Synonyms: | PCCA, PCCase alpha subunit, PCCase subunit alpha, PccA complementation group |
Target Sequences: | NM_000282 NP_000273.2 P05165 |
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