rs2531246484
This variant is located in the ATP2C1 gene.
▶ClinVar annotation
About ATP2C1
The protein encoded by this gene belongs to the family of P-type cation transport ATPases. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of calcium ions. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
View all ATP2C1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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