Aliases for PDHB Gene
External Ids for PDHB Gene
Previous GeneCards Identifiers for PDHB Gene
The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and carbon dioxide, and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 beta subunit. Mutations in this gene are associated with pyruvate dehydrogenase E1-beta deficiency. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2012]
GeneCards Summary for PDHB Gene
PDHB (Pyruvate Dehydrogenase E1 Beta Subunit) is a Protein Coding gene. Diseases associated with PDHB include Pyruvate Dehydrogenase E1-Beta Deficiency and Pyruvate Dehydrogenase E1-Alpha Deficiency. Among its related pathways are Metabolism and Glucagon signaling pathway. GO annotations related to this gene include pyruvate dehydrogenase (acetyl-transferring) activity and pyruvate dehydrogenase activity. An important paralog of this gene is BCKDHB.
UniProtKB/Swiss-Prot for PDHB Gene
The pyruvate dehydrogenase complex catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and thereby links the glycolytic pathway to the tricarboxylic cycle.