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Human ATP2A2 wild-type allele is located in the vicinity of 12q24.11 and is approximately 70 kb in length. This allele, which encodes sarcoplasmic/endoplasmic reticulum calcium ATPase 2 protein, is involved in the modulation of cardiac muscle contractility. Mutation of the gene is associated with both Darier disease and acrokeratosis verruciformis.
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