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atp2c1

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Official Full Name
ATPase, Ca++ transporting, type 2C, member 1
Background
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.
Synonyms
ATP2C1; ATPase, Ca++ transporting, type 2C, member 1; BCPM, benign chronic pemphigus (Hailey Hailey disease); calcium-transporting ATPase type 2C member 1; ATP2C1A; KIAA1347; PMR1; secretory pathway Ca2+/Mn2+ ATPase 1; SPCA1; AW061228; D930003G21Rik; hSPCA1; OTTHUMP00000216069; OTTHUMP00000216071; OTTHUMP00000216072; OTTHUMP00000216073; OTTHUMP00000216074; 1700121J11Rik; AT2C1_HUMAN; ATP dependent Ca(2+) pump PMR1; ATP-dependent Ca(2+) pump PMR1; ATPase 2C1; BCPM; Calcium transporting ATPase type 2C member 1; HHD; HUSSY 28; MGC58010; MGC93231; OTTHUMP00000216066; OTTHUMP00000216068; OTTHUMP00000216075; PMR1L; SPCA; HUSSY-28; OTTHUMP00000216067; OTTHUMP00000216070; ATPase, Ca(2+)-sequestering; HUSSY-28, ATP2C1A, BCPM, HHD, KIAA1347, PMR1, SPCA1, hSPCA1, ATP2C1

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