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BEST4 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 4 gene is predominantly expressed in the colon.
Gene Name: | bestrophin 4 |
Family/Subfamily: | Ion channel , Bestrophin |
Synonyms: | BEST4, Bestrophin-4, Bestrophin 4, VMD2L2 |
Target Sequences: | NM_153274 NP_695006.1 Q8NFU0 |
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