This gene encodes a member of the bestrophin gene family. This small gene family is characterized by proteins with a highly conserved N-terminus with four to six transmembrane domains. Bestrophins may form chloride ion channels or may regulate voltage-gated L-type calcium-ion channels. Bestrophins are generally believed to form calcium-activated chloride-ion channels in epithelial cells but they have also been shown to be highly permeable to bicarbonate ion transport in retinal tissue. Mutations in this gene are responsible for juvenile-onset vitelliform macular dystrophy (VMD2), also known as Best macular dystrophy, in addition to adult-onset vitelliform macular dystrophy (AVMD) and other retinopathies. Alternative splicing results in multiple variants encoding distinct isoforms.
BEST1; bestrophin 1; vitelliform macular dystrophy 2 , VMD2; bestrophin-1; BEST; Best disease; BMD; BEST 1; Best macular dystrophy; BEST1_HUMAN; Bestrophin1; mBest1; TU15B; Vitelliform macular dystrophy 2; Vitelliform macular dystrophy; Vitelliform macular dystrophy protein 2; VMD 2; VMD2; OTTHUMP00000235994; OTTHUMP00000235998; OTTHUMP00000235999; OTTHUMP00000236000; ARB; RP50