Western blot analysis of ATP2C1 over-expressed 293 cell line, cotransfected with ATP2C1 Validated Chimera RNAi ( Cat # H00027032-R01V ) (Lane 2) or non-transfected control (Lane 1). Blot probed with ATP2C1 monoclonal antibody (M01), clone 2G1 (Cat # H00027032-M01 ). GAPDH ( 36.1 kDa ) used as specificity and loading control.
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