Aliases for PHGDH Gene
External Ids 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 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form. Among its related pathways are Metabolism and Carbon metabolism. GO annotations related to this gene include electron carrier activity and phosphoglycerate dehydrogenase activity. An important paralog of this gene is CTBP2.