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Proteintech
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Immunogen sequence: MVPALRYLV GACGRARGRF AGGSPGACGF ASGRPRPLCG GSRSASTSSF DIVIVGGGIV GLASARALIL RHPSLSIGVL EKEKDLAVHQ TGHNSGVIHS GIYYKPESLK AKLCVQGAAL LYEYCQQKGI SYKQCGKLIV AVEQEEIPRL QALYEKGLQN GVPGLRLIQQ EDIKKKEPYC RGLMAIDCPH TGIVDYRQVA LSFAQDFQEA GGSVLTNFEV KGIEMAKESP SRSIDGMQYP IVIKNTKGEE IRCQYVVTCA GLYSDRISEL SGCTPDPRIV PFRGDYLLLK PEKCYLVKGN IYPVPDSRFP FLGVHFTPRM DGSIWLGPNA VLAFKREGYR PFDFSATDVM DI (1-351 aa encoded by BC006117)
This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe mental retardation.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: 2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; Duranin; FLJ12618; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase
基因别名: C14orf160; L2HGA; L2HGDH
UniProt ID: (Human) Q9H9P8
Entrez Gene ID: (Human) 79944, (Pig) 100152180