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The protein encoded by this gene is a subunit of the propionyl-CoA carboxylase (PCC) enzyme, which is involved in the catabolism of propionyl-CoA. PCC is a mitochondrial enzyme that probably acts as a dodecamer of six alpha subunits and six beta subunits. This gene encodes the beta subunit of PCC. Defects in this gene are a cause of propionic acidemia type II (PA-2). Multiple transcript variants encoding different isoforms have been found for this gene.
Gene Name: | propionyl CoA carboxylase, beta polypeptide |
Synonyms: | PCCB, PCCase subunit beta |
Target Sequences: | NM_000532 NP_000523.2 P05166 |
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