PSPH
Description
The PSPH (phosphoserine phosphatase) is a protein-coding gene located on chromosome 7.
Phosphoserine phosphatase is an enzyme encoded by the PSPH gene in humans. It belongs to a subfamily of phosphotransferases and is responsible for the final step in L-serine formation. The enzyme catalyzes the 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. Mutations in PSPH cause Neu-Laxova syndrome and Phosphoserine phosphatase deficiency.
Phosphoserine phosphatase (PSPH) catalyzes the final irreversible step in L-serine biosynthesis from carbohydrates. It dephosphorylates O-phospho-L-serine to L-serine. L-serine is then used in various cellular processes such as protein synthesis, production of other amino acids, nucleotide metabolism, glutathione synthesis, and racemization to D-serine, a neuromodulator. PSPH may also act on O-phospho-D-serine.
PSPH is also known as PSP, PSPHD.
