{"symbol":"ATP2C1","synonyms":["BCPM","HHD","PMR1","HSPCA1","ATP2C1A","SPCA1"],"name":"ATPase, Ca++ transporting, type 2C, member 1","description":"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]","ncbiEntrezGeneId":27032,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/27032","proteins":[{"symbol":"AT2C1_HUMAN","href":"/api/1.0/protein/AT2C1_HUMAN"}],"hgncRootFamilies":[{"name":"ATPases","href":"/api/1.0/gene_family/ATPases"}]}