bestrophin

bestrophin

A protein encoded by BEST1 on chromosome 11q12-q13, which forms chloride channels and regulates voltage-gated L-type calcium ion channels.
References in periodicals archive ?
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.
The gene for Best's disease has been mapped to chromosome 11 and mutations have been found in the bestrophin gene.