MeSH definition : A protein family characterized by a highly conserved N-terminus and four to six transmembrane
helices; they function as bicarbonate permeable, calcium-activated chloride channels.
Bestrophin-1 (BEST-1) and bestrophin-2 are highly expressed in human RETINAL PIGMENT
EPITHELIUM cells and mutations in the BEST-1 gene are associated with VITELLIFORM
MACULAR DYSTROPHY, TYPE 2.;
A protein family characterized by a highly conserved N-terminus and four to six transmembrane
helices; they function as bicarbonate permeable, calcium-activated chloride channels.
Bestrophin-1 (BEST-1) and bestrophin-2 are highly expressed in human RETINAL PIGMENT
EPITHELIUM cells and mutations in the BEST-1 gene are associated with VITELLIFORM
MACULAR DYSTROPHY, TYPE 2.