PSPH

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

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

Model organisms
is_associated_with::Model organisms have been used in the study of PSPH function. A conditional is_associated_with::knockout mouse line called Psphtm1a(EUCOMM)Hmgu was generated at the is_associated_with::Wellcome Trust Sanger Institute. Male and female animals underwent a standardized is_associated_with::phenotypic screen to determine the effects of deletion. Additional screens performed: - In-depth immunological phenotyping

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