Entrez gene ID | | 27032 |
Official gene symbol | | ATP2C1 |
Full name | | ATPase, Ca++ transporting, type 2C, member 1 |
Aliases | | ,ATP2C1A,BCPM,HHD,KIAA1347,PMR1,SPCA1,hSPCA1, |
Gene 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 the calcium. 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] |
Location | | Chromosome: 3 Locus: 3q22.1 |
Gene position | | 130613434 - 130735556 Map Viewer |
Gene orientation | | plus |
Gene size | | 122123 bp |
Gene sequence |
| |
OMIM ID | | 604384 |
|