Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.

@article{Hartzell2008MolecularPO,
  title={Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.},
  author={H Criss Hartzell and Zhiqiang Qu and Kuai Yu and Qinghuan Xiao and L T Chien},
  journal={Physiological reviews},
  year={2008},
  volume={88 2},
  pages={639-72}
}
This article reviews the current state of knowledge about the bestrophins, a newly identified family of proteins that can function both as Cl(-) channels and as regulators of voltage-gated Ca(2+) channels. The founding member, human bestrophin-1 (hBest1), was identified as the gene responsible for a dominantly inherited, juvenile-onset form of macular degeneration called Best vitelliform macular dystrophy. Mutations in hBest1 have also been associated with a small fraction of adult-onset… CONTINUE READING
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New VMD2 gene mutations identified in MOLECULAR PHYSIOLOGY OF BESTROPHINS

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