Full name: pyruvate dehydrogenase E1 subunit beta

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: E1beta; PDHBD; PDHE1-B; PDHE1B; PHE1B

Summary: 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]

Expression: Ubiquitous expression in heart (RPKM 60.3), kidney (RPKM 43.5) and 25 other tissues

Gene size: 6203bp

Exon count: 9