Gene Symbol | DLD |
Entrez Gene ID | 1738 |
Full Name | dihydrolipoamide dehydrogenase |
Synonyms | DLDD,DLDH,E3,GCSL,LAD,PHE3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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. [provided by RefSeq, Jan 2014]. |
Disorder MIM: | |
Disorder Html: | Dihydrolipoamide dehydrogenase deficiency, 246900 (3) |