Bestrophin-2
Protein-coding gene in the species Homo sapiens
01Function
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.
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Images, from Wikimedia Commons:
- Ideogram human chromosome 19.svg by National Center for Biotechnology Information, U.S. National Library of Medicine, Public domain
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