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 syndrome1. Among its related pathways are Metabolism and Glycosaminoglycan 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. An important paralog of this gene is CTBP2.