ATP2A2

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ATP2A2

A gene on chromosome 12q24.11 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.

Molecular pathology
ATP2A2 mutations cause Darier-White syndrome, which is characterised by loss of intraepidermal cell adhesion and abnormal keratinisation.
References in periodicals archive ?
The virus carrying SERCA2 is delivered through the coronary arteries into the heart during a cardiac catheterization procedure.
In large animal models of heart failure, the researchers found that gene therapy delivery of high dose SUMO-1 alone, as well as SUMO-1 and SERCA2 together, result in stronger heart contractions, better blood flow, and reduced heart volumes, compared to just SERCA2 gene therapy alone.
SERCA1 and SERCA2 genes are different in their C-terminate (18).