| 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) |
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