Best1 - bestrophin 1

Predicted to enable chloride channel activity and identical protein binding activity. Acts upstream of or within detection of light stimulus involved in visual perception and regulation of calcium ion transport. Predicted to be located in basolateral plasma membrane. Predicted to be part of chloride channel complex. Is expressed in choroid plexus; neocortex; and telencephalon meninges. Used to study bestrophinopathy and vitelliform macular dystrophy. Human ortholog(s) of this gene implicated in autosomal dominant vitreoretinochoroidopathy; bestrophinopathy; macular degeneration; retinitis pigmentosa 50; and vitelliform macular dystrophy. Orthologous to human BEST1 (bestrophin 1). [provided by Alliance of Genome Resources, Apr 2022]