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atp2a1

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Official Full Name
ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
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 to the sarcoplasmic reticulum lumen, and is involved in muscular excitation and contraction. Mutations in this gene cause some autosomal recessive forms of Brody disease, characterized by increasing impairment of muscular relaxation during exercise. Alternative splicing results in two transcript variants encoding different isoforms.
Synonyms
ATP2A1; ATPase, Ca++ transporting, cardiac muscle, fast twitch 1; ATP2A; sarcoplasmic/endoplasmic reticulum calcium ATPase 1; SERCA1; calcium pump 1; SR Ca(2+)-ATPase 1; endoplasmic reticulum class 1/2 Ca(2+) ATPase; calcium-transporting ATPase sarcoplasm; calcium-transporting ATPase sarcoplasmic reti; cb279; serca; zgc:92110; wu:cegs655; wu:fb17h11; wu:fb19b10; acc; accordion; sarcoendoplasmic reticulum calcium ATPase; ATP2A3; SERCA1a

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