Gene Symbol | BEST1 |
Entrez Gene ID | 7439 |
Full Name | bestrophin 1 |
Synonyms | ARB,BEST,BMD,RP50,TU15B,VMD2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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]. |
Disorder MIM: | |
Disorder Html: | Macular dystrophy, vitelliform, 2, 153700 (3); Bestrophinopathy, autosomal recessive, 611809 (3); Vitreoretinochoroidopathy, 193220 (3); Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3); Retinitis pigmentosa-50, 613194 (3); Retinitis pigmentosa, concentric, 613194 (3) |