Bestrophin 1

From Wikipedia, the free encyclopedia

Bestrophin 1

Identifiers

BEST1; BMD; BEST; TU15B; VMD2

External IDs

OMIM: 607854 MGI: 1346332 HomoloGene: 37895

Gene ontology
Molecular Function:	• ion channel activity • chloride channel activity • calcium ion binding • chloride ion binding
Cellular Component:	• membrane fraction • membrane • integral to membrane • basolateral plasma membrane
Biological Process:	• ion transport • visual perception • response to stimulus

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

Refseq

NM_004183 (mRNA)
NP_004174 (protein)

XM_980943 (mRNA)
XP_986037 (protein)

Location

Chr 11: 61.47 - 61.49 Mb

Chr 19: 10.05 - 10.06 Mb

Pubmed search

[1]

[2]

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

[edit] References

^ Entrez Gene: BEST1 bestrophin 1.

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.