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Proteintech
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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
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.
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: D-2-hydroxyglutarate dehydrogenase, mitochondrial; D2hgdh {ECO:0000250|UniProtKB:Q8N465}; FLJ42195; MGC25181
基因别名: AA408776; AA408778; AI325464; D2HGD; D2HGDH; RGD1307976
UniProt ID: (Human) Q8N465, (Mouse) Q8CIM3, (Rat) P84850
Entrez Gene ID: (Human) 728294, (Mouse) 98314, (Rat) 301624