PPP3CC

Chr 8

protein phosphatase 3 catalytic subunit gamma

Also known as: CALNA3, CNA3, PP2Bgamma

NCBI Gene: 5533 ENSG00000120910 UniProt: P48454 OMIM: 114107

Calcineurin regulatory subunit gamma encodes a regulatory subunit of calcineurin, a calcium-dependent, calmodulin-stimulated protein phosphatase that dephosphorylates key transcription factors including NFATC1 and ELK1 in calcium-mediated signaling pathways. Mutations cause autosomal recessive severe intellectual disability with progressive spastic paraplegia, affecting both cognitive development and motor function. The gene shows high constraint against loss-of-function variants (LOEUF 0.44), indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Calcineurin is a calcium-dependent, calmodulin-stimulated protein phosphatase involved in the downstream regulation of dopaminergic signal transduction. Calcineurin is composed of a regulatory subunit and a catalytic subunit. The protein encoded by this gene represents one of the regulatory subunits that has been found for calcineurin. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

OMIM 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

0.44

LOEUF

Multiple*

Mechanism· predicted