PHGDH

Name

phosphoglycerate dehydrogenase

Type

protein-coding

Position

119,648,411–119,744,227 (+)

Aliases

3-PGDH, 3PGDH, HEL-S-113, NLS, NLS1, PDG, PGAD, PGD, PGDH, PHGDHD

Ensembl

ENSG00000092621

RefSeq RNA

NM_006623.4, NM_032692.1, XM_011541226.3, XM_011541227.3, XM_011541228.3

RefSeq protein

NP_006614.2, XP_011539528.1, XP_011539529.1, XP_011539530.1, XP_047273636.1

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].