This 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 one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 4 gene is predominantly expressed in the colon.
BEST4; bestrophin 4; vitelliform macular dystrophy 2 like 2 , VMD2L2; bestrophin-4; BEST 4; Bestrophin4; MGC126872; Vitelliform macular dystrophy 2 like 2; Vitelliform macular dystrophy 2 like protein 2; VMD2L2; vitelliform macular dystrophy 2-like 2; vitelliform macular dystrophy 2-like protein 2