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VMD2L3 / BEST3
bestrophin 3
BEST3 belongs to the bestrophin family of anion channels, which includes BEST1 (MIM 607854), the gene mutant in vitelliform macular dystrophy (VMD; MIM 153700), and 2 other BEST1-like genes, BEST2 (MIM 607335) and BEST4 (MIM 607336). Bestrophins are transmembrane (TM) proteins that share a homology region containing a high content of aromatic residues, including an invariant arg-phe-pro (RFP) motif. The bestrophin genes share a conserved gene structure, with almost identical sizes of the 8 RFP-TM domain-encoding exons and highly conserved exon-intron boundaries. Each of the 4 bestrophin genes has a unique 3-prime end of variable length (Stohr et al., 2002 [PubMed 12032738]; Tsunenari et al., 2003 [PubMed 12907679]).
| Gene Name: | bestrophin 3 |
| Family/Subfamily: | Ion channel , Bestrophin |
| Synonyms: | BEST3, Bestrophin-3, VMD2L3, Bestrophin 3 |
| Target Sequences: | NM_032735 NP_116124.2 Q8N1M1 |
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