ATP2C1, Official Symbol ATP2C1provided by HGNC Official Full Name ATPase secretory pathway Ca2+ transporting 1provided by HGNC Primary source HGNC:HGNC:13211 See related Ensembl:ENSG00000017260 MIM:604384; AllianceGenome:HGNC:13211 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HHD; BCPM; PMR1; SPCA1; hSPCA1; ATP2C1A Summary 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] Expression Ubiquitous expression in prostate (RPKM 37.4), brain (RPKM 22.8) and 25 other tissues See more Orthologs mouse all