ATP2A2


Also found in: Wikipedia.

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 ?
A mutation in the gene ATP2A2 which encodes for sarco-endoplasmic reticulum Ca2+ ATPase, ATP2A2 (SERCA2).
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.
The disease is caused by a loss-of-function mutation in the ATP2A2 gene on chromosome 12q23-24 that encodes the sarco/endoplasmic reticulum calcium ATPase (SERCA2).
DISCUSSION: Darier's disease (1) is caused by a loss-of-function mutation in the ATP2A2 that leads to a disruption of [Ca.
8) In 1999, mutations in the ATP2A2 gene were found to cause the disease.
More compellingly, the ATP2A2 gene that is mutated in Darier's disease encodes SERCA2.
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).
Mutations in ATP2A2, encoding a Ca+2 pump, cause Darier disease.
Effects of drugs and anticytokine antibodies on expression of ATP2A2 and ATP2C1 in cultured normal human keratinocytes.
Spectrum of novel ATP2A2 mutation causes segmental Darier's disease.
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.
2,12 Although neuropsychiatric abnormalities such as epilepsy, mental impairment, and mood disorders have been associated with DD, no evidence indicates that mutations in ATP2A2 are associated with these disorders.