Full name: ATPase secretory pathway Ca2+ transporting 1

Gene type: protein coding

RefSeq status: REVIEWED

Also known as: ATP2C1A; BCPM; HHD; PMR1; SPCA1; hSPCA1

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]

Expression: Ubiquitous expression in prostate (RPKM 37.4), brain (RPKM 22.8) and 25 other tissues

Gene size: 166118bp

Exon count: 31