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]
Function:
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.
Subcellular Location:
Golgi apparatus membrane; Multi-pass membrane protein.
Tissue Specificity:
Found in most tissues except colon, thymus, spleen and leukocytes. Most abundant in keratinocytes and kidney.
DISEASE:
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.
Similarity:
Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily.
SWISS:
P98194
Gene ID:
27032
Database links:
Entrez Gene: 27032 Human
Entrez Gene: 235574 Mouse
Omim: 604384 Human
SwissProt: P98194 Human
SwissProt: Q80XR2 Mouse
Unigene: 584884 Human
Unigene: 326247 Mouse
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