PSPH

Phosphoserine phosphatase is an enzyme that in humans is encoded by the PSPH gene.

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.

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