Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
Immunogen sequence: MLPRRPLAW PAWLLRGAPG AAGSWGRPVG PLARRGCCSA PGTPEVPLTR ERYPVQRLPF STVSKQDLAA FERIVPGGVV TDPEALQAPN VDWLRTLRGC SKVLLRPRTS EEVSHILRHC HERNLAVNPQ GGNTGMVGGS VPVFDEIILS TARMNRVLSF HSVSGILVCQ AGCVLEELSR YVEERDFIMP LDLGAKGSCH IGGNVATNAG GLRFLRYGSL HGTVLGLEVV LADGTVLDCL TSLRKDNTGY DLKQLFIGSE GTLGIITTVS ILCPPKPRAV NVAFLGC (1-286 aa encoded by BC036604)
This gene encodes D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.
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Protein Aliases: D-2-hydroxyglutarate dehydrogenase, mitochondrial; FLJ42195; MGC25181
Gene Aliases: AA408776; AA408778; AI325464; D2HGD; D2HGDH
UniProt ID: (Human) Q8N465, (Mouse) Q8CIM3
Entrez Gene ID: (Human) 728294, (Mouse) 98314
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