D-3-Phosphoglycerate Dehydrogenase (PHGDH) Antibody – Rabbit Polyclonal

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]

PHGDH: Defects in PHGDH are the cause of phosphoglycerate dehydrogenase deficiency (PHGDH deficiency). It is characterized by congenital microcephaly, psychomotor retardation, and seizures. Belongs to the D-isomer specific 2-hydroxyacid dehydrogenase family.

Protein type: Cell development/differentiation; Oxidoreductase; Amino Acid Metabolism - glycine, serine and threonine; EC 1.1.1.95

Chromosomal Location of Human Ortholog: 1p12

Cellular Component: cytosol; myelin sheath

Molecular Function: electron carrier activity; NAD binding; phosphoglycerate dehydrogenase activity

Biological Process: amino acid biosynthetic process; brain development; gamma-aminobutyric acid metabolic process; glial cell development; glutamine metabolic process; glycine metabolic process; L-serine biosynthetic process; neural tube development; neurite development; regulation of gene expression; serine family amino acid biosynthetic process; spinal cord development; taurine metabolic process; threonine metabolic process

Disease: Neu-laxova Syndrome 1; Phosphoglycerate Dehydrogenase Deficiency