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ATP2a2 (Ca++ Transporting, Cardiac Muscle, Slow Twitch 2 ATPase), also known as SERCA2 (Sarcoplasmic reticulum Ca(2+)-ATPase 2), belongs to the large family of P-type cation pumps that couple ATP hydrolysis with cation transport across membranes. The ATP2a2 pump maintains low cytosolic Ca(2+) concentrations by actively transporting Ca(2+) from the cytosol into the sarco/endoplasmic reticulum lumen. Experiments on ATP2a2-null mice demonstrate that this enzyme may be important for the cardiac function. Germ-line mutations in ATP2a2 are the cause of the Darier-White disease (keratosis follicularis), which is characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities.
Gene Name: | ATPase, Ca++ transporting, cardiac muscle, slow twitch 2 |
Family/Subfamily: | Transporter , ATPase - P type, type IIA |
Synonyms: | ATP2A2, ATP2B, Calcium pump 2, DAR, SR Ca(2+)-ATPase 2, Cardiac Ca2+ ATPase, DD, SERCA2 |
Target Sequences: | NM_001681 NP_001672.1 P16615 |
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