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DLD / Diaphorase / E3 is 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.
|Gene Name:||dihydrolipoamide dehydrogenase|
|Synonyms:||DLD, Diaphorase, DLDH, Dihydrolipoamide dehydrogenase, E3, GCSL, Lipoyl dehydrogenase, PHE3, Lipoamide dehydrogenase, Lipoamide reductase, LAD|
|Target Sequences:||NM_000108 NP_000099.2 P09622|
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