rs112703671

This variant is located in the ATP2C1 gene.

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ClinVar annotation

Benign★★★☆
4 submitters2 publications

Familial benign pemphigus; not specified; not provided

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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]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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