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]
基因名
PHGDH
蛋白名
D-3-phosphoglycerate dehydrogenase
亚基
Homotetramer
疾病
Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency) . It is characterized by congenital microcephaly, psychomotor retardation, and seizures.
相似性
Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.
功能
Amino-acid biosynthesis; L-serine biosynthesis; L-serine from 3-phospho-D-glycerate: step 1/3.