Entrez gene ID | | 5096 |
Official gene symbol | | PCCB |
Full name | | propionyl CoA carboxylase, beta polypeptide |
Aliases | | ,DKFZp451E113, |
Gene summary | | 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. |
Location | | Chromosome: 3 Locus: 3q21-q22 |
Gene position | | 135969167 - 136049013 Map Viewer |
Gene orientation | | plus |
Gene size | | 79847 bp |
Gene sequence |
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OMIM ID | | 232050 |