CHP1

Chr 15

calcineurin like EF-hand protein 1

Also known as: CHP, SLC9A1BP, SPAX9, Sid470p, p22, p24

NCBI Gene: 11261 ENSG00000187446 UniProt: Q99653

The protein is a calcium-binding cofactor that regulates Na+/H+ exchanger activity at the plasma membrane, controls vesicular trafficking between organelles, and inhibits calcineurin phosphatase activity. Mutations cause spastic ataxia 9, an autosomal recessive disorder affecting movement and coordination. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.535), suggesting some tolerance to functional disruption.

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a phosphoprotein that binds to the Na+/H+ exchanger NHE1. This protein serves as an essential cofactor which supports the physiological activity of NHE family members and may play a role in the mitogenic regulation of NHE1. The protein shares similarity with calcineurin B and calmodulin and it is also known to be an endogenous inhibitor of calcineurin activity. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpastic ataxia 9, autosomal recessive

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

0.54

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

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