PPP4C

Chr 16

protein phosphatase 4 catalytic subunit

Also known as: PP-X, PP4, PP4C, PPH3, PPP4, PPX

NCBI Gene: 5531 ENSG00000149923 UniProt: P60510

Protein phosphatase 4 catalytic subunit dephosphorylates target proteins involved in DNA repair, cell cycle regulation, and chromatin organization. Mutations cause autosomal recessive neurodevelopmental disorder with early-onset seizures, intellectual disability, and microcephaly. This gene shows high constraint against loss-of-function variants (LOEUF 0.489), indicating that complete loss of protein function is likely pathogenic.

ResearchSummary from RefSeq, UniProt

Enables protein serine/threonine phosphatase activity. Involved in regulation of double-strand break repair via homologous recombination. Located in several cellular components, including chromatin; cytosol; and nucleoplasm. Part of protein phosphatase 4 complex. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.49

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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