Encoded by the VMD2 gene on chromosome 11q13 Bestrophin 1 is the prototypic member of the RFP family of proteins which are more commonly called "bestrophins". The protein family was originally identified in Caenorhabditis elegans based on a conserved amino acid motifs Arg-Phe-Pro (RFP). In humans there are four members of the bestrophin family numbered sequentially BEST1, BEST2, BEST3 and BEST4. Bestrpohin 1 has a very limited tissue distribution with mRNA having been identified in the retinal pigment epithelium (RPE), testis, placenta, and brain, and protein having been detected only in the RPE. The founding member, bestrophin-1, was identified as the gene responsible for a dominantly inherited, juvenile-onset form of macular degeneration called Best vitelliform macular dystrophy (BVMD). Using Western blotting high levels of Bestrophin 1 were detected by anti-bestrophin 1 antibodies in various cell lines in vitro (1).
Bestrophin 1 has also been found to be co-localized as detected by the confocal microscopy using anti-bestrophin antibodies (2). Best1 mutations could result in eye diseases that range in presentation from macular degeneration to nanophthalmos. The majority of our knowledge comes from studies that have sought to understand how Best1 mutations or dysfunction could induce the classical symptoms of the most common of these diseases. Research efforts towards a better understanding of Bestrophins and its interaction with other proteins will converge upon the development of an effective therapy for bestrophinopathies and diseases that involve bestrophins. Novus Biologicals offers a wide variety of tools for your research needs in the form of antibodies and other reagents against Bestrophin 1 and related proteins.
- PMID: 12711595
- PMID: 19237432
Novus Biologicals offers Bestrophin 1 reagents for your research needs including: