FunctionThis magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.
Tissue specificityFound in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.
Involvement in diseaseDefects in ATP2C1 are the cause of Hailey-Hailey disease (HHD) [MIM:169600]; also known as benign familial pemphigus. HHD is an autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD.
Sequence similaritiesBelongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.