Synonyms: AT2A2,Atp2a2,ATP2B,ATPase Ca++ transporting cardiac muscle slow twitch 2,Calcium pump 2,Calcium-transporting ATPase sarcoplasmic reticulum type,Calcium-transporting ATPase sarcoplasmic reticulum type slow twitch skeletal muscle isoform,Cardiac Ca2+ ATPase,DAR,DD,Endoplasmic reticulum class 1/2 Ca(2+) ATPase,MGC45367,Sarcoplasmic/endoplasmic reticulum calcium ATPase 2,SERCA 2,SERCA2,serca2a,slow twitch skeletal muscle isoform,SR Ca(2+)-ATPase 2
Background: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of muscle cells. This enzyme catalyzes the hydrolysis of ATP coupled with the translocation of calcium from the cytosol into the sarcoplasmic reticulum lumen, and is involved in regulation of the contraction/relaxation cycle. Mutations in this gene cause Darier-White disease, also known as keratosis follicularis, an autosomal dominant skin disorder characterized by loss of adhesion between epidermal cells and abnormal keratinization. Alternative splicing results in multiple transcript variants encoding different isoforms.