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Molecular evolution and functional divergence of the bestrophin protein family

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Milenkovic, Vladimir M. ; Langmann, Thomas ; Schreiber, Rainer ; Kunzelmann, Karl ; Weber, Bernhard H. F.
License: Creative Commons: Attribution 3.0
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Date of publication of this fulltext: 14 Feb 2017 12:37


BACKGROUND: Mutations in human bestrophin 1 are associated with at least three autosomal-dominant macular dystrophies including Best disease, adult onset vitelliform macular dystrophy and autosomal dominant vitreo-retinochoroidopathy. The protein is integral to the membrane and is likely involved in Ca2+-dependent transport of chloride ions across cellular membranes. Bestrophin 1 together with ...


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