A Potential Cytosolic Function of Bestrophin-1

  • Olaf StraußEmail author
  • Rudgar Neussert
  • Claudia Müller
  • Vladimir M. Milenkovic
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 723)


Mutations in the BEST1 gene lead to a variety of retinal degenerations. In the eye, the BEST1 gene product bestrophin-1 is expressed in the retinal pigment epithelium (RPE). It is likely that retinal degenerations are caused by a change of the RPE function. Recent publications indicated that endogenously expressed bestrophin-1 function as a cytosolic Cl channel in Ca2+ stores of the endoplasmic reticulum influences intracellular Ca2+ signaling. Possible cytosolic function of BEST1 could help to understand discrepancies between the bestrophin-1 function in overexpression systems and in animal models as well as to develop new ways to understand BEST1-associated retinal degenerations.


VMD2 BEST1 Ca2+-signaling Ca2+ stores Endoplasmic reticulum Vitelliform macular dystrophy Best disease Endogenously expressed bestrophin-1 


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  • Olaf Strauß
    • 1
    Email author
  • Rudgar Neussert
    • 2
  • Claudia Müller
    • 1
  • Vladimir M. Milenkovic
    • 1
  1. 1.Experimental Ophthalmology, Eye HospitalUniversity Health Center RegensburgRegensburgGermany
  2. 2.Experimental Ophthalmology, Eye HospitalUniversity Hospital Hamburg-EppendorfHamburgGermany

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