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BEST1 / BEST / Bestrophin is 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.
Gene Name: | bestrophin 1 |
Family/Subfamily: | Ion channel , Bestrophin |
Synonyms: | BEST1, ARB, Best1V1Delta2, Bestrophin-1, BEST, Best disease, Bestrophin, Bestrophin 1, BMD, Hbest1, VMD2, RP50, TU15B |
Target Sequences: | NM_004183 NP_004174.1 O76090 |
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