Gene:
ATPase, Ca++ transporting, type 2C, member 1
Gene ID:
198189
Symbol:
ATP2C1
Species:
1000
Description:
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 the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.