Article
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Progress in retinal and eye research - 1 May 2009
Boon Camiel J F, Klevering B Jeroen, Leroy Bart P, Hoyng Carel B, Keunen Jan E E, den Hollander Anneke I
Abstract excerpt
Bestrophin-1 is an integral membrane protein, encoded by the BEST1 gene, which is located in the basolateral membrane of the retinal pigment epithelium. The bestrophin-1 protein forms a Ca(2+) activated Cl(-) channel and is involved in the regulation of voltage-dependent Ca(2+) channels. In addition, bestrophin-1 appears to play a role in ocular development. Over 120 different human BEST1 mutations have been...
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