Ji and Kittredge et al. demonstrate that the neck and aperture of human Bestrophin1, a Ca2+-activated Cl- channel, are both Ca2+-dependent gates. By showing hyper-activity of Bestrophin1, which is associated with its enhanced gate opening in the presence of three patient-derived mutations, this study provides mechanistic insights into the gain-of-function mutations that cause macular degenerative disease.
- Changyi Ji
- Alec Kittredge
- Tingting Yang
