PSPH Antibody – Goat Polyclonal

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, Jul 2008]

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

Chromosomal Location of Human Ortholog: 7p11.2

Cellular Component: cytoplasm; cytosol; neuron projection

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

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

Disease: Phosphoserine Phosphatase Deficiency