Synonyms:3-PGDH, 3PGDH, ENTREZ:26227, HEL-S-113, HGNC:8923, MIM:606879, NLS, NLS1, NM_006623, NP_006614, PDG, PGAD, PGD, PGDH, PHGDH, PHGDHD, SERA, XM_011541226, XM_011541227, XM_011541228, XM_011541231, XM_024446338, XP_011539528, XP_011539529, XP_011539530, XP_011539533, XP_024302106, phosphoglycerate dehydrogenase
Omim:OMIM:606879
Id:ENSG00000092621
Hgnc:HGNC:8923
Description:phosphoglycerate dehydrogenase
This 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. [provided by RefSeq, Aug 2011]