Gene Symbol | ATP2C1 |
Entrez Gene ID | 27032 |
Full Name | ATPase secretory pathway Ca2+ transporting 1 |
Synonyms | ATP2C1A,BCPM,HHD,PMR1,SPCA1,hSPCA1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Hailey-Hailey disease, 169600 (3) |