Entrez gene ID | | 144453 |
Official gene symbol | | BEST3 |
Full name | | bestrophin 3 |
Aliases | | ,MGC13168,MGC40411,VMD2L3, |
Gene summary | | 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]).[supplied by OMIM] |
Location | | Chromosome: 12 Locus: 12q14.2-q15 |
Gene position | | 70093196 - 70047389 Map Viewer |
Gene orientation | | minus |
Gene size | | 45808 bp |
Gene sequence |
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OMIM ID | | 607337 |
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