ATP2C1( Human )
ATPase secretory pathway Ca2+ transporting 1
Alias
ATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1
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].