Anti-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. Protein function: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. [The UniProt Consortium]