功能This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.
组织特异性Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.
疾病相关Defects 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.
序列相似性Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.