Bestrophin-2
(Redirected from BEST2)
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.[1][2][3]
Function
[edit | edit source]This gene is a member of the bestrophin gene family of anion channels. Bestrophin genes share a similar gene structure with highly conserved exon-intron boundaries, but with distinct 3' ends. Bestrophins are transmembrane proteins that contain a homologous region rich in aromatic residues, including an invariant arg-phe-pro motif. Mutation in one of the family members (bestrophin 1) is associated with vitelliform macular dystrophy. The bestrophin 2 gene is mainly expressed in the non-pigmented ciliary epithelium and colon.[3][4]
References
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External links
[edit | edit source]- Human BEST2 genome location and BEST2 gene details page in the UCSC Genome Browser.
Further reading
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