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 ?
26,27) It has been hypothesized that these incidental histologic findings found adjacent to other skin tumors may harbor random acquired mutations, from the socalled field cancerization effect, (22) identical to the mutations found in their respective genodermatosis (ie, ATP2A2 gene mutations encoding a calcium ion pump in Darier disease).
Grover's disease, despite histological similarity to Darier's disease, does not share an abnormality in the ATP2A2 gene.
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.