bestrophin

bestrophin

A protein encoded by BEST1 on chromosome 11q12-q13, which forms chloride channels and regulates voltage-gated L-type calcium ion channels.
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c) When detected in younger patients an autosomal dominant dystrophy associated with a mutation in bestrophin 1 (BEST1) gene should be suspected
In the case of Acid-sensing ASIC channels [22] and calcium-activated anion channel bestrophin, homology models combined with mutagenesis experiments were used to characterize the interactions with toxins in the former, and to evaluate how specific mutations affect its capacity to bind calcium ions [23] for the latter.
[23.] Kranjc A, Grillo FW, Rievaj J, Boccaccio A, Pietrucci F (2009) Regulation of bestrophins by Ca2+: a theoretical and experimental study.
This approach is aimed at producing a culture of RPE cells with properties characteristic of the native tissue, including morphological features (apical microvilli, basal invaginations, well-defined tight junctions, and prominent melanocytic pigmentation), expression of specific proteins (CRALBP, RpE65, MITF, Otx2, ZO-1, occludin, claudin, ezrin, [Na.sup.+]/[K.sup.+]-ATPase, bestrophin, and cytokeratins 8/18), and physiological parameters, TER in particular.
The gene for Best's disease has been mapped to chromosome 11 and mutations have been found in the bestrophin gene.
Multimodal imaging of bestrophinopaties suggests a regional difference in expression of the bestrophin protein throughout the retina, with more protein being produced in the retinal periphery compared to the macula.