Aliases for PHGDH Gene
External Ids for PHGDH Gene
Previous GeneCards Identifiers for PHGDH Gene
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]
GeneCards Summary for PHGDH Gene
PHGDH (Phosphoglycerate Dehydrogenase) is a Protein Coding gene. Diseases associated with PHGDH include Phosphoglycerate Dehydrogenase Deficiency and Neu-Laxova Syndrome 1. Among its related pathways are Metabolism and Glucose / Energy Metabolism. GO annotations related to this gene include electron carrier activity and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor.
UniProtKB/Swiss-Prot for PHGDH Gene
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.