Best2 forms calcium-sensitive chloride channels and is permeable to bicarbonate. The Best2 gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in the Best2 gene is associated with vitelliform macular dystrophy. The Best2 gene is mainly expressed in the retinal pigment epithelium and colon. Diseases associated with BEST2 include Vitelliform Macular Dystrophy and Bestrophinopathy.
BEST2; Bestrophin-2; vitelliform macular dystrophy 2-like 1; Vitelliform macular dystrophy 2-like protein 1; VMD2-like gene 1; VMD2L-1