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ATP2C1
ATPase, Ca++ transporting, type 2C, member 1
ATP2C1 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.
| Gene Name: | ATPase, Ca++ transporting, type 2C, member 1 |
| Family/Subfamily: | Transporter , ATPase - P type, type IIA |
| Synonyms: | ATP2C1, ATP-dependent Ca(2+) pump PMR1, ATPase 2C1, BCPM, ATPase, Ca(2+)-sequestering, HUSSY-28, HHD, PMR1, PMR1L, KIAA1347, ATP2C1A, HSPCA1, SPCA1 |
| Target Sequences: | NM_014382 NP_055197.2 P98194 |
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