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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.
aei; after eight protein; branched chain alpha-keto acid dehydrogenase complex subunit E3; deltaD; deltaD transmembrane protein; delta-like protein D; diaphorase; dihydrolipoamide dehydrogenase; dihydrolipoamide dehydrogenase (E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex); dihydrolipoamide: NAD+ oxidoreductase; dihydrolipoyl dehydrogenase mitochondrial-like protein; dihydrolipoyl dehydrogenase, mitochondrial; DLD; DLDD; DLDH; E3; E3 component of pyruvate dehydrogenase complex, 2-oxo-glutarate complex, branched chain keto acid dehydrogenase complex; GCSL; Glycine cleavage system L protein; glycine cleavage system protein L; LAD; lipoamide dehydrogenase; lipoamide dehydrogenase precursor; lipoamide reductase; lipoyl dehydrogenase; LOW QUALITY PROTEIN: dihydrolipoyl dehydrogenase, mitochondrial; mitochondrial Dihydrolipoyl dehydrogenase-like protein; OTTHUMP00000206744; OTTHUMP00000206746; OTTHUMP00000206748; OTTHUMP00000206749; PH; PHE 3; PHE3; QflA-16416; QtsA-11266; sc:d0402; unnamed protein product
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