Aliases for PCCB Gene
External Ids for PCCB Gene
Previous GeneCards Identifiers for PCCB Gene
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.[provided by RefSeq, May 2010]
GeneCards Summary for PCCB Gene
PCCB (Propionyl-CoA Carboxylase Beta Subunit) is a Protein Coding gene. Diseases associated with PCCB include Propionicacidemia and Pccb-Related Propionic Acidemia. Among its related pathways are Defective HLCS causes multiple carboxylase deficiency and Mitochondrial Fatty Acid Beta-Oxidation. GO annotations related to this gene include ligase activity and propionyl-CoA carboxylase activity. An important paralog of this gene is MCCC2.