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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for BEST1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID7439
Official gene symbolBEST1
Full namebestrophin 1
Aliases,ARB,BEST,BMD,RP50,TU15B,VMD2,
Gene summaryThis 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.
LocationChromosome: 11   Locus: 11q13
Gene position61717356 - 61731935  Map Viewer
Gene orientationplus
Gene size14580 bp
Gene sequence
OMIM ID607854