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.

单词	atp2a2
释义	ATP2A2 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.
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