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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| DLD-20-RE | 20 (40 μL) | 200 μL |  |
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| DLD-20-OR | 20 (40 μL) | 200 μL |  |
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| DLD-20-GO | 20 (40 μL) | 200 μL |  |
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| DLD-20-GR | 20 (40 μL) | 200 μL |  |
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| DLD-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : DLD
Gene Name : Dihydrolipoamide dehydrogenase
Chromosome : CHR 7: 107,891,106-107,921,197
Locus : 7q31.1
Alt. Genes : PREB
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