Phosphoserine phosphatase is an
enzyme
Enzymes () are proteins that act as biological catalysts by accelerating chemical reactions. The molecules upon which enzymes may act are called substrates, and the enzyme converts the substrates into different molecules known as products. A ...
that in humans is encoded by the ''PSPH''
gene
In biology, the word gene (from , ; "...Wilhelm Johannsen coined the word gene to describe the Mendelian units of heredity..." meaning ''generation'' or ''birth'' or ''gender'') can have several different meanings. The Mendelian gene is a ba ...
.
Function
The protein encoded by this gene belongs to a subfamily of the
phosphotransferases
Phosphotransferases are a category of enzymes ( EC number 2.7) that catalyze phosphorylation reactions. The general form of the reactions they catalyze is:
:A-P + B \rightleftharpoons B-P + A
Where ''P'' is a phosphate group and A and B are the ...
. 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
Neu–Laxova syndrome (NLS, also known as Neu syndrome; Neu-Povysilová syndrome; or 3-phosphoglycerate dehydrogenase deficiency, neonate form)
is a rare autosomal recessive disorder characterized by severe intrauterine growth restriction and mu ...
and Phosphoserine phosphatase deficiency.
References
Further reading
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External links
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{{PDB Gallery, geneid=5723