Gene Symbol | PHGDH |
Entrez Gene ID | 26227 |
Full Name | phosphoglycerate dehydrogenase |
Synonyms | 3-PGDH,3PGDH,HEL-S-113,NLS,NLS1,PDG,PGAD,PGD,PGDH,PHGDHD,SERA |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Phosphoglycerate dehydrogenase deficiency, 601815 (3); Neu-Laxova syndrome 1, 256520 (3) |