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pdhb

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Official Full Name
pyruvate dehydrogenase (lipoamide) beta
Background
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.
Synonyms
PDHB; pyruvate dehydrogenase (lipoamide) beta; pyruvate dehydrogenase E1 component subunit beta, mitochondrial; pyruvate dehydrogenase, E1 beta polypeptide; PDHBD; PHE1B; PDHE1-B; DKFZp564K0164; zgc:64062; wu:fc76a05; nir; noir; DKEYP-87E7.2

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