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This target displays homology in the following species: Cow: 100%; Dog: 100%; Guinea Pig: 93%; Horse: 100%; Human: 100%; Mouse: 86%; Rabbit: 100%; Rat: 93%; Yeast: 86%; Zebrafish: 93%
This gene encodes the L protein of the mitochondrial glycine cleavage system. The L protein, also named dihydrolipoamide dehydrogenase, is also a component of the pyruvate dehydrogenase complex, the alpha-ketoglutarate dehydrogenase complex, and the branched-chain alpha-keto acide dehydrogenase complex. Mutations in this gene have been identified in patients with E3-deficient maple syrup urine disease and lipoamide dehydrogenase deficiency.
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Protein Aliases: diaphorase; Dihydrolipoamide dehydrogenase; dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex); Dihydrolipoyl dehydrogenase, mitochondrial; E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex; Glycine cleavage system L protein; glycine cleavage system protein L; lipoamide dehydrogenase; lipoamide reductase; lipoyl dehydrogenase; OTTHUMP00000206744; OTTHUMP00000206746; OTTHUMP00000206748; OTTHUMP00000206749; PHE 3
Gene Aliases: DLD; DLDD; DLDH; E3; GCSL; LAD; PHE3
UniProt ID: (Human) P09622, (Rat) Q6P6R2
Entrez Gene ID: (Human) 1738, (Rat) 298942
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