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Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
Bestrophin-2 is a protein that in humans is encoded by the BEST2 gene.[5][6][7]
BEST2 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | BEST2, VMD2L1, bestrophin 2 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 607335; MGI: 2387588; HomoloGene: 41187; GeneCards: BEST2; OMA:BEST2 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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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.[7][8]
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