Gene: ATP2A2
Alternate names for this Gene: ATP2B|DAR|DD|SERCA2
Gene Summary: This gene encodes one of the SERCA Ca(2+)-ATPases, which are intracellular pumps located in the sarcoplasmic or endoplasmic reticula of the skeletal muscle. 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. Other types of mutations in this gene have been associated with various forms of muscular dystrophies. Alternative splicing results in multiple transcript variants encoding different isoforms.
Gene is located in Chromosome: 12
Location in Chromosome : 12q24.11
Description of this Gene: ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Type of Gene: protein-coding