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 ?
Seipin was also demonstrated to bind sarco/endoplasmic reticulum [Ca.sup.2+] -ATPase (SERCA, UniProt gene name: ATP2A2) protein both in the Drosophila fat body model and in human HEK293 cells.
Similarly, miR-21 [83] and miR-328 [84] directly target programmed cell death 4 (PDCD4) gene and Atp2a2, respectively.
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).
Pemphigus Desmosomes Psoriasis Increased T-cell activity Darier's disease Gene encoding Autosomal intracellular dominant calcium pump (ATP2A2 gene) gene) Dyskeratosis Dyskerin (X-linked), X-linked, congenita TINF2 and sometimes TERT (autosomal autosomal dominant) dominant Disorders Clinical features Histopathological features Defect in [alpha]-helical rod pattern Epidermolysis Blistering of hands and Intraepithelial bullosa simplex feet which heal clefting without scarring.
(8) In 1999, mutations in the ATP2A2 gene were found to cause the disease.
(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).
(13.) Dhitavat J, Macfarlane S, Dode L et al: Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier's disease.
Mutations in ATP2A2, encoding a Ca+2 pump, cause Darier disease.
Among such genes, ATP2A2 turns out to encode a significant intracellular pump located in the sarcoplasmic or endoplasmic reticula [116,117].
A mutation in the gene ATP2A2 which encodes for sarco-endoplasmic reticulum Ca2+ ATPase, ATP2A2 (SERCA2).