{"symbol":"BEST1","synonyms":["ARB","Best1V1Delta2","TU15B","RP50","BEST","VMD2"],"name":"bestrophin 1","description":"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]","ncbiEntrezGeneId":7439,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/7439","proteins":[{"symbol":"BEST1_HUMAN","href":"/api/1.0/protein/BEST1_HUMAN"}],"hgncRootFamilies":[{"name":"Ion channels","href":"/api/1.0/gene_family/Ion+channels"}]}