| Protein Name | dihydrolipoamide dehydrogenase |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 1738 |
| Gene Symbol | DLD |
| UniProt | P09622 (DLDH_HUMAN), A0A024R713 (A0A024R713_HUMAN), E9PEX6 (E9PEX6_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
301
Total Number of Articles : 264 |
Description |
dihydrolipoamide dehydrogenase |
| Gene 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] |
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