Search Thermo Fisher Scientific
Search Thermo Fisher Scientific
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Immunogen sequence: GRHLHLASPV QESPFYVLIE TSGSNAGHDA EKLGHFLEHA LGSGLVTDGT MATDQRKVKM LWALRERITE ALSRDGYVYK YDLSLPVERL YDIVTDLRAR LGPHAKHVVG YGHLGDGNLH LNVTAEAFSP SLLAALEPHV YEWTAGQQGS VSAEHGVGFR KRDVLGYSKP PGALQLMQQL KALLDPKGIL NPYKTLPSQA; Positive Samples: Mouse liver, Rat heart
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; D2hgdh {ECO:0000250|UniProtKB:Q8N465}; FLJ42195; MGC25181
Gene Aliases: AA408776; AA408778; AI325464; D2hgdh; RGD1307976
UniProt ID: (Mouse) Q8CIM3, (Rat) P84850
Entrez Gene ID: (Mouse) 98314, (Rat) 301624
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