Protein Name phosphoglycerate dehydrogenase
Organism Homo sapiens
Gene ID 26227
Gene Symbol

PHGDH

UniProt O43175 (SERA_HUMAN)
Relationships Total Number of functionally related compound(s) : 255
Total Number of Articles : 283
Description

phosphoglycerate dehydrogenase

Gene Summary

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]

synonyms
  • D-3-phosphoglycerate dehydrogenase
  • 2-oxoglutarate reductase
  • 3-phosphoglycerate dehydrogenase
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Properties