CHP1 Chromosome 15
Calcineurin like EF-hand protein 1
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What This Gene Does
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]
Gene Info
Gene Group
EF-hand domain containing
Locus Type
gene with protein product
Location
15q15.1
Ensembl
ENSG00000187446
Associated Conditions (2)
Spastic ataxia 9
autosomal recessive
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1310569366 | Health Risk | Pathogenic | Spastic ataxia 9, autosomal recessive, Spastic ataxia 9 |