ATP2C1 antibody targets the ATP2C1 protein, a calcium/manganese transporter encoded by the ATP2C1 gene. This protein, also known as secretory pathway Ca²⁺-ATPase 1 (SPCA1), belongs to the P-type ATPase family and plays a critical role in maintaining calcium homeostasis within the Golgi apparatus. It facilitates the active transport of Ca²⁺ and Mn²⁺ ions into Golgi lumens, essential for post-translational modification, protein sorting, and intracellular signaling. Dysregulation of ATP2C1 is linked to Hailey-Hailey disease (HHD), a rare autosomal dominant skin disorder characterized by defective epidermal adhesion, blistering, and erosions, caused by loss-of-function mutations in the ATP2C1 gene.
ATP2C1 antibodies are valuable tools in research and diagnostics. They enable the detection of ATP2C1 expression and localization in tissues, particularly in epithelial cells, aiding studies on its physiological roles and pathological mechanisms. In HHD research, these antibodies help identify protein expression deficits or abnormal subcellular distribution in patient-derived samples. Commercially available ATP2C1 antibodies are used in techniques like Western blotting, immunofluorescence, and immunohistochemistry. Additionally, they contribute to exploring ATP2C1's potential involvement in other conditions, such as cancer or neurodegenerative diseases, where calcium dysregulation is implicated. However, specificity validation is crucial due to possible cross-reactivity with related ATPases. Overall, ATP2C1 antibodies are pivotal for advancing understanding of calcium-dependent cellular processes and associated disorders.