BEST1, Official Symbol BEST1provided by HGNC Official Full Name bestrophin 1provided by HGNC Primary source HGNC:HGNC:12703 See related Ensembl:ENSG00000167995 MIM:607854; AllianceGenome:HGNC:12703 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as ARB; BMD; BEST; RP50; VMD2; TU15B; Best1V1Delta2 Summary 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.[provided by RefSeq, Nov 2008] Expression Broad expression in brain (RPKM 5.3), appendix (RPKM 3.0) and 23 other tissues See more Orthologs mouse all