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 three transcript variants encoding different isoforms.
Aliases ATP2A; SERCA1
Entrez GeneID 487
Swissprot O14983
WB Predicted band size 110kDa
Host/Isotype Mouse IgG1
Species Reactivity Human,Mouse,Monkey
Immunogen Purified recombinant fragment of human ATP2A1 (AA: 487-631) expressed in E. Coli.
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