Recombinant Human D-3-phosphoglycerate dehydrogenase (PHGDH)

Uniprot Id

O43175

Target Species

Human

Target Name

PHGDH

Target Full Name

D-3-phosphoglycerate dehydrogenase

Target Function

Catalyzes the reversible oxidation of 3-phospho-D-glycerate to 3-phosphonooxypyruvate, the first step of the phosphorylated L-serine biosynthesis pathway. Also catalyzes the reversible oxidation of 2-hydroxyglutarate to 2-oxoglutarate and the reversible oxidation of (S)-malate to oxaloacetate.

Target Involvement

Phosphoglycerate dehydrogenase deficiency (PHGDHD); Neu-Laxova syndrome 1 (NLS1)

Target Protein Families

D-isomer specific 2-hydroxyacid dehydrogenase family

Target Research Area

Metabolism

Target Synonyms

3 PGDH ; 3-PGDH; 3-phosphoglycerate dehydrogenase; 3PGDH; D-3-phosphoglycerate dehydrogenase; EC 1.1.1.95; Epididymis secretory protein Li 113; HEL S 113; NLS; NLS1; PDG; PGAD; PGD; PGDH; PGDH3; Phgdh; PHGDHD; Phosphoglycerate dehydrogenase; SERA; SERA_HUMAN

Target Background

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.