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BEST2 / Bestrophin-2
bestrophin 2
BEST2 / Bestrophin-2 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 retinal pigment epithelium and colon.
| Gene Name: | bestrophin 2 |
| Family/Subfamily: | Ion channel , Bestrophin |
| Synonyms: | BEST2, Bestrophin-2, Bestrophin 2, Hbest2, VMD2-like gene 1, VMD2L1 |
| Target Sequences: | NM_017682 NP_060152.2 Q8NFU1 |
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