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Immunogen sequence: NQVTATKAD GGTQVIDTKN ILIATGSEVT PFPGITIDED TIVSSTGALS LKKVPEKMVV IGAGVIGVEL GSVWQRLGAD VTAVEFLGHV GGVGIDMEIS KNFQRILQKQ GFKFKLNTKV TGATKKSDGK IDVSIEAASG GKAEVITCDV LLVCIGRRPF TKNLGLEELG IELDPRGRIP VNTRFQTKIP NIYAIGDVVA GPMLAHKAED EGIICVEGMA GGAVHIDYNC VPSVIYTHPE VAWVGKSEEQ LKEEGIEYKV GKFPFAANSR AKTNADTDGM VKILGQKSTD RVLGAHILGP GAGEMVNEAA LALEYGASCE DIARVCHAHP TLSEAFREAN LAASFGKSIN F (160-509 aa encoded by BC018696)
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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: branched chain alpha-keto acid dehydrogenase complex subunit E3; 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; PH; PHE 3
Gene Aliases: DLD; DLDD; DLDH; E3; GCSL; LAD; PHE3
UniProt ID: (Human) P09622, (Rat) Q6P6R2, (Mouse) O08749
Entrez Gene ID: (Human) 1738, (Rat) 298942, (Mouse) 13382
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