Synonyms: Dehydrogenase complex,E3 component,Diaphorase,Dihydrolipoamide dehydrogenase,Dihydrolipoyl dehydrogenase,Dihydrolipoyl dehydrogenase mitochondrial,dld,DLDD,DLDH,DLDH,E3,E3 branched chain aplha-keto acid,E3 component of pyruvate dehydrogenase,E3 component of pyruvate dehydrogenase complex 2 oxo glutarate complex branched chain keto acid dehydrogenase complex,GCSL,Glycine cleavage system L protein,Glycine cleavage system protein L,LAD,lipoamide dehydrogenase,Lipoamide reductase,Lipoyl dehydrogenase,mitochondrial,OTTHUMP00000206744,OTTHUMP00000206746,OTTHUMP00000206748,OTTHUMP00000206749,PHE 3,PHE3,Pyruvate dehydrogenase component E3
Background: This gene encodes a member of the class-I pyridine nucleotide-disulfide oxidoreductase family. The encoded protein has been identified as a moonlighting protein based on its ability to perform mechanistically distinct functions. In homodimeric form, the encoded protein functions as a dehydrogenase and is found in several multi-enzyme complexes that regulate energy metabolism. However, as a monomer, this protein can function as a protease. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency. Alternative splicing results in multiple transcript variants.