PHGDH Antibody – Mouse Monoclonal

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

Chromosomal Location of Human Ortholog: 1p12

Cellular Component: cytosol

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

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

Disease: Phosphoglycerate Dehydrogenase Deficiency; Neu-laxova Syndrome 1