Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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.
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Protein Aliases: 2-hydroxyglutarate dehydrogenase; alpha-hydroxyglutarate oxidoreductase; alpha-ketoglutarate reductase; Duranin; FLJ12618; L-2-hydroxyglutarate dehydrogenase, mitochondrial; L-alpha-hydroxyglutarate dehydrogenase
Gene Aliases: C14orf160; L2HGA; L2HGDH
UniProt ID: (Human) Q9H9P8
Entrez Gene ID: (Human) 79944
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