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.
SERCA1 and SERCA2 genes are different in their C-terminate (18).
CAUSES: Mutations in the ATP2A2 gene cause functional disruptions in all domains of SERCA2 (the calcium pump), including reduction of ATP affinity, loss of calcium affinity, effects on phosphorylation of ATP and Pi, blocking of dephosphorylation, and uncoupling of calcium transport from ATP hydrolysis.
7,8 The mechanism by which decreased activity of the SERCA2 calcium pump leads to these changes is still under investigation.
ATP2A2encoding the SERCA2 pump has been identified as the defective gene in Darier's disease.