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Gene : BEST3 Homo sapiens

Name  ? bestrophin 3 Cytological Location  12q15
Brief Description  bestrophin 3
Description  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, Mar 2008]
  • synonyms:
  • HGNC:17105,
  • MGC40411,
  • NM_152439,
  • OTTHUMG00000149919,
  • VMD2L3,
  • uc001svg.3,
  • MGC13168,
  • AF440758,
  • VMD2L3,
  • vitelliform macular dystrophy 2-like 3,
  • BEST3
  • identifiers:
  • 144453,
  • ENSG00000127325,
  • BEST3

Genome feature

Region: gene ? Length: 55909  
Location: 12:69643508-69699416 reverse strand Cyto location: 12q15


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Disease

0 Diseases

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3756 SN Ps

4 Cross References

13 Data Sets

35 Homologues

0 Located Features

97 Rna Seq Results