Bestrophin 1

Bestrophin 1
Identifiers
Symbols	BEST1 ; BMD; BEST; TU15B; VMD2
External IDs	Template:OMIM5 Template:MGI HomoloGene: 37895
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Bestrophin 1, also known as BEST1, is a human gene.

Further reading

• White K, Marquardt A, Weber BH (2000). "VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies". Hum. Mutat. 15 (4): 301–8. doi:10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N. PMID 10737974.CS1 maint: Multiple names: authors list (link)
• Nordström S, Barkman Y (1977). "Hereditary maculardegeneration (HMD) in 246 cases traced to one gene-source in central Sweden". Hereditas. 84 (2): 163–76. PMID 838599.
• Stone EM, Nichols BE, Streb LM; et al. (1993). "Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13". Nat. Genet. 1 (4): 246–50. doi:10.1038/ng0792-246. PMID 1302019.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Forsman K, Graff C, Nordström S; et al. (1992). "The gene for Best's macular dystrophy is located at 11q13 in a Swedish family". Clin. Genet. 42 (3): 156–9. PMID 1395087.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Stöhr H, Marquardt A, Rivera A; et al. (1998). "A gene map of the Best's vitelliform macular dystrophy region in chromosome 11q12-q13.1". Genome Res. 8 (1): 48–56. PMID 9445487.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Petrukhin K, Koisti MJ, Bakall B; et al. (1998). "Identification of the gene responsible for Best macular dystrophy". Nat. Genet. 19 (3): 241–7. doi:10.1038/915. PMID 9662395.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pennisi E (1998). "New gene found for inherited macular degeneration". Science. 281 (5373): 31. PMID 9679014.
• Marquardt A, Stöhr H, Passmore LA; et al. (1998). "Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)". Hum. Mol. Genet. 7 (9): 1517–25. PMID 9700209.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Caldwell GM, Kakuk LE, Griesinger IB; et al. (1999). "Bestrophin gene mutations in patients with Best vitelliform macular dystrophy". Genomics. 58 (1): 98–101. doi:10.1006/geno.1999.5808. PMID 10331951.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bakall B, Marknell T, Ingvast S; et al. (1999). "The mutation spectrum of the bestrophin protein--functional implications". Hum. Genet. 104 (5): 383–9. PMID 10394929.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Allikmets R, Seddon JM, Bernstein PS; et al. (1999). "Evaluation of the Best disease gene in patients with age-related macular degeneration and other maculopathies". Hum. Genet. 104 (6): 449–53. PMID 10453731.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Palomba G, Rozzo C, Angius A; et al. (2000). "A novel spontaneous missense mutation in VMD2 gene is a cause of a best macular dystrophy sporadic case". Am. J. Ophthalmol. 129 (2): 260–2. PMID 10682987.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lotery AJ, Namperumalsamy P, Jacobson SG; et al. (2000). "Mutation analysis of 3 genes in patients with Leber congenital amaurosis". Arch. Ophthalmol. 118 (4): 538–43. PMID 10766140.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lotery AJ, Munier FL, Fishman GA; et al. (2000). "Allelic variation in the VMD2 gene in best disease and age-related macular degeneration". Invest. Ophthalmol. Vis. Sci. 41 (6): 1291–6. PMID 10798642.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Krämer F, White K, Pauleikhoff D; et al. (2000). "Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration". Eur. J. Hum. Genet. 8 (4): 286–92. doi:10.1038/sj.ejhg.5200447. PMID 10854112.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marmorstein AD, Marmorstein LY, Rayborn M; et al. (2001). "Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium". Proc. Natl. Acad. Sci. U.S.A. 97 (23): 12758–63. doi:10.1073/pnas.220402097. PMID 11050159.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Marchant D, Gogat K, Boutboul S; et al. (2001). "Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy". Hum. Mutat. 17 (3): 235. doi:10.1002/humu.9. PMID 11241846.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eksandh L, Bakall B, Bauer B; et al. (2001). "Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene". Ophthalmic Genet. 22 (2): 107–15. PMID 11449320.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sun H, Tsunenari T, Yau KW, Nathans J (2002). "The vitelliform macular dystrophy protein defines a new family of chloride channels". Proc. Natl. Acad. Sci. U.S.A. 99 (6): 4008–13. doi:10.1073/pnas.052692999. PMID 11904445.CS1 maint: Multiple names: authors list (link)