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ATP2C1

Official Full Name
ATPase secretory pathway Ca2+ transporting 1
Organism
Homo sapiens
GeneID
27032
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. [provided by RefSeq, Aug 2011]
Synonyms
HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A;

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