Phosphoserine Phosphatase (PSPH) Antibody – Mouse Monoclonal

The protein encoded by this gene belongs to a subfamily of the phosphotransferases. This encoded enzyme is responsible for the third and last step in L-serine formation. It catalyzes magnesium-dependent hydrolysis of L-phosphoserine and is also involved in an exchange reaction between L-serine and L-phosphoserine. Deficiency of this protein is thought to be linked to Williams syndrome. [provided by RefSeq]

PSPH: Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates. Defects in PSPH are the cause of phosphoserine phosphatase deficiency (PSPHD)[MIM:614023]. A disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome. Belongs to the SerB family.

Protein type: Hydrolase; EC 3.1.3.3; Amino Acid Metabolism - glycine, serine and threonine; Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 7p11.2

Cellular Component: neuron projection; cytoplasm; cytosol

Molecular Function: protein homodimerization activity; phosphoserine phosphatase activity; magnesium ion binding; calcium ion binding

Biological Process: response to nutrient levels; L-serine biosynthetic process; dephosphorylation; response to mechanical stimulus; L-serine metabolic process; response to testosterone stimulus; amino acid biosynthetic process

Disease: Phosphoserine Phosphatase Deficiency