基因名:
DLD
产品别名:
DLDD; DLDH; E3; GCSL; LAD; OGDC-E3; PHE3; DLD; dihydrolipoamide dehydrogenase; dihydrolipoamide dehydrogenase; dihydrolipoyl dehydrogenase, mitochondrial; E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex; diaphorase; epididymis secretory sperm binding protein; glycine cleavage system L protein; glycine cleavage system protein L; lipoamide dehydrogenase; lipoamide reductase; lipoyl dehydrogenase; 二氢硫辛酸脱氢酶(DLD); 硫辛酰胺脱氢酶;
背景信息:
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]