PSPH

Function

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.

Clinical significance

Homozygous or compound heterozygous mutations in PSPH cause Neu-Laxova syndrome and Phosphoserine phosphatase deficiency.

Model organisms

Model organisms have been used in the study of PSPH function. A conditional knockout mouse line called Psph^{tm1a(EUCOMM)Hmgu} was generated at the Wellcome Trust Sanger Institute. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping