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.
Synonyms: 0, Bestrophins, BEST 1 Protein, Bestrophin 1, Bestrophin Family, BEST-2 Protein, Bestrophin Proteins, Bestrophin-1, BEST 2 Protein, Bestrophin-2, Bestrophin 2, BEST-1 Protein
Instance information
comment
2018
identifier
D000075002