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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.
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: D-2-hydroxyglutarate dehydrogenase, mitochondrial; D2hgdh {ECO:0000250|UniProtKB:Q8N465}; FLJ42195; MGC25181
Gene Aliases: AA408776; AA408778; AI325464; D2HGD; D2HGDH; RGD1307976
UniProt ID: (Human) Q8N465, (Mouse) Q8CIM3, (Rat) P84850
Entrez Gene ID: (Human) 728294, (Mouse) 98314, (Rat) 301624
If an Invitrogen™ antibody doesn't perform as described on our website or datasheet,we'll replace the product at no cost to you, or provide you with a credit for a future purchase.*
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