Molecular evolution and functional divergence of the bestrophin protein family |
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Authors: | Vladimir M Milenkovic Thomas Langmann Rainer Schreiber Karl Kunzelmann Bernhard HF Weber |
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Institution: | (1) Institute of Human Genetics, University of Regensburg, Regensburg, Germany;(2) Institute of Physiology, University of Regensburg, Regensburg, Germany |
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Abstract: | 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 its three homologues forms a phylogenetically
highly conserved family of proteins. |
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Keywords: | |
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