| ATP2C1, ATP2C1A, BCPM, HHD, PMR1, SPCA1, hSPCA1, ATPase secretory pathway Ca2+ transporting 1|
MGI: 1889008 HomoloGene: 56672 GeneCards: ATP2C1
Calcium-transporting ATPase type 2C member 1 is an enzyme that in humans is encoded by the ATP2C1 gene.
This gene encodes one of the SPCA proteins, a Ca2+ ion-transporting P-type ATPase. This magnesium-dependent enzyme catalyzes the hydrolysis of ATP coupled with the transport of the calcium. Defects in this gene cause Hailey-Hailey disease, an autosomal dominant disorder. Alternatively spliced transcript variants encoding different isoforms have been identified.