PHGDH Rabbit mAb

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. Synonyma: NLS, PDG, PGD, NLS1, PGAD, PGDH, SERA, 3PGDH, 3-PGDH, PHGDHD, HEL-S-113, PHGDH