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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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