| ncRNA Symbol: | DLD |
| Full Name: | dihydrolipoamide dehydrogenase |
| Category: | mRNA |
| Synonyms: | DLDD|DLDH|E3|GCSL|LAD|PHE3 |
| Chromosome: | chr7 |
| Strand: | + |
| Coordinate: | | Start Site(bp): | 107890970 | End Site(bp): | 107931730 | |
| 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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