Protein Name | phosphoglycerate dehydrogenase |
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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] |
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