ATP2A1(redirected from OTTHUMP00000162561)
ATP2A1A gene on chromosome 16p12.1 that encodes a SERCA Ca2+-ATPase, an intracellular pump located in the sarcoplasmic or endoplasmic reticula of muscle cells, which catalyses the hydrolysis of ATP coupled with the translocation of calcium from the cytosol to the sarcoplasmic reticulum lumen, and is involved in muscle contraction and relaxation.
ATP2A1 mutations cause some autosomal recessive forms of Brody disease, which is characterised by impaired muscular relaxation during exercise.
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