ATP2C1 Antibody – Mouse Monoclonal

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]

ATP2C1: This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in ATP2C1 are the cause of Hailey-Hailey disease (HHD); also known as benign familial pemphigus. HHD is an autosomal dominant disorder characterized by persistent blisters and suprabasal cell separation (acantholysis) of the epidermis, due to impaired keratinocyte adhesion. Patients lacking all isoforms except isoform 2 have HHD. Belongs to the cation transport ATPase (P-type) (TC 3.A.3) family. Type IIA subfamily. 6 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.6.3.8; Hydrolase; Membrane protein, integral; Membrane protein, multi-pass; Transporter; Transporter, ion channel

Chromosomal Location of Human Ortholog: 3q22.1

Cellular Component: Golgi apparatus; Golgi membrane; integral to plasma membrane; membrane; trans-Golgi network

Molecular Function: calcium-transporting ATPase activity; signal transducer activity

Biological Process: actin cytoskeleton reorganization; calcium ion transport; calcium-dependent cell-cell adhesion; cellular calcium ion homeostasis; epidermis development; Golgi calcium ion homeostasis; Golgi calcium ion transport; positive regulation of I-kappaB kinase/NF-kappaB cascade

Disease: Benign Chronic Pemphigus