Aliases for BEST1 Gene
External Ids for BEST1 Gene
Previous HGNC Symbols for BEST1 Gene
Previous GeneCards Identifiers for BEST1 Gene
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]
GeneCards Summary for BEST1 Gene
BEST1 (Bestrophin 1) is a Protein Coding gene. Diseases associated with BEST1 include Vitreoretinochoroidopathy and Bestrophinopathy, Autosomal Recessive. Among its related pathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and Ion channel transport. Gene Ontology (GO) annotations related to this gene include chloride channel activity. An important paralog of this gene is BEST3.
UniProtKB/Swiss-Prot Summary for BEST1 Gene
Forms calcium-sensitive chloride channels. Highly permeable to bicarbonate.