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Immunogen sequence: EEPPRDRALV DHENVISCPH LGASTKEAQS RCGEEIAVQF VDMVKGKSLT GVVNAQALTS AFSPHTKPWI GLAEALGTLM RAWAGSPKGT IQVITQGTSL KNAGNCLSPA VIVGLLKEAS KQADVNLVNA KLLVKEAGLN VTTSHSPAAP GEQGFGECLL AVALAGAPYQ AVGLVQGTTP VLQGLNGAVF RPEVPLRRDL PLLLFRTQTS DPAMLPTMIG LLAEAGVRLL SYQTSLVSDG ETWHVMGISS LLPSLEAWKQ HVTEAFQFHF
PHGDH gene encodes the enzyme which is involved in the early steps of L-serine synthesis in animal cells. L-serine is required for D-serine and other amino acid synthesis. The enzyme requires NAD/NADH as a cofactor and forms homotetramers for activity. Mutations in this gene have been found in a family with congenital microcephaly, psychomotor retardation and other symptoms. Multiple alternatively spliced transcript variants have been found, however the full-length nature of most are not known.
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Protein Aliases: 2-oxoglutarate reductase; 3-PGDH; 3-phosphoglycerate dehydrogenase; 3-phosphoglycerate dehyrogenase; A10; D-3-phosphoglycerate dehydrogenase; epididymis secretory protein Li 113; Malate dehydrogenase
Gene Aliases: 3-PGDH; 3PGDH; 4930479N23; A10; HEL-S-113; NLS; NLS1; PDG; PGAD; PGD; PGDH; PGDH3; PHGDH; PHGDHD; SERA
UniProt ID: (Human) O43175, (Mouse) Q61753, (Rat) O08651
Entrez Gene ID: (Human) 26227, (Mouse) 236539, (Rat) 58835
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