Entrez gene ID | | 7439 |
Official gene symbol | | BEST1 |
Full name | | bestrophin 1 |
Aliases | | ,ARB,BEST,BMD,RP50,TU15B,VMD2, |
Gene 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. |
Location | | Chromosome: 11 Locus: 11q13 |
Gene position | | 61717356 - 61731935 Map Viewer |
Gene orientation | | plus |
Gene size | | 14580 bp |
Gene sequence |
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OMIM ID | | 607854 |
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