Bestrophin 1: Proteins and Enzymes

Bestrophin 1 (BEST1) is a member of the bestrophin family of anion channels. Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. Bestrophins are believed to function as chloride channels.

Bestrophin-1, also known as best macular dystrophy (BMD) or vitelliform macular dystrophy (VMD2), is an inherited autosomal form of macular degeneration, characterized by a depressed light peak in the electrooculogram (EOG). Bestrophin 1 is a 68 kDa basolateral plasma membrane protein encoded by the VMD2 gene. Bestrophin 1's function is still unknown, but data suggests that it is a chloride channel that plays a role in generating the altered EOG in Best disease patients. In addition, Bestrophin-1 is a useful biochemical and histological marker of RPE (retinal pigment epithelial cells) cells.

Bestrophin antibodies are useful tools for studies involving vision and retinal disease. .