Immunogen sequence: KVLISDSLDP CCRKILQDGG LQVVEKQNLS KEELIAELQD CEGLIVRSAT KVTADVINAA EKLQVVGRAG TGVDNVDLEA ATRKGILVMN T
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; D-3-phosphoglycerate dehydrogenase; epididymis secretory protein Li 113; Malate dehydrogenase; PDG; SERA
Gene Aliases: 3-PGDH; 3PGDH; HEL-S-113; NLS; NLS1; PDG; PGAD; PGD; PGDH; PGDH3; PHGDH; PHGDHD; SERA
UniProt ID: (Human) O43175
Entrez Gene ID: (Human) 26227