PSPH gene

phosphoserine phosphatase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Catalyzes the last step in the biosynthesis of serine from carbohydrates. The reaction mechanism proceeds via the formation of a phosphoryl-enzyme intermediates.

From NCBI Gene:

  • Deficiency of phosphoserine phosphatase

From UniProt:

Phosphoserine phosphatase deficiency (PSPHD): A disorder that results in pre- and postnatal growth retardation, moderate psychomotor retardation and facial features suggestive of Williams syndrome. [MIM:614023]

Cytogenetic Location: 7p11.2, which is the short (p) arm of chromosome 7 at position 11.2

Molecular Location: base pairs 56,010,363 to 56,051,604 on chromosome 7 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 7p11.2, which is the short (p) arm of chromosome 7 at position 11.2
  • PSP
  • PSPHD