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PHGDH
phosphoglycerate dehydrogenase
PHGDH 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.
| Gene Name: | phosphoglycerate dehydrogenase |
| Synonyms: | PHGDH, 3-PGDH, 3PGDH, PGDH, Phosphoglycerate dehydrogenase, PDG, PGAD, PGDH3 |
| Target Sequences: | NM_006623 NP_006614.2 O43175 |
Publications (1)
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