Aliases for ATP2C1 Gene
External Ids for ATP2C1 Gene
Previous HGNC Symbols for ATP2C1 Gene
Previous GeneCards Identifiers for ATP2C1 Gene
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]
GeneCards Summary for ATP2C1 Gene
ATP2C1 (ATPase Secretory Pathway Ca2+ Transporting 1) is a Protein Coding gene. Diseases associated with ATP2C1 include Benign Chronic Pemphigus and Pemphigus. Among its related pathways are CREB Pathway and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Gene Ontology (GO) annotations related to this gene include calcium ion binding and obsolete signal transducer activity. An important paralog of this gene is ATP2C2.
UniProtKB/Swiss-Prot Summary for ATP2C1 Gene
This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium.