bestrophin 1
Última actualización 13 Mar 2023
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El BEST1 gene provides instructions for making a protein called bestrophin-1, which appears to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye. The retinal pigment epithelium is involved in the growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and colour.
Normal function
El BEST1 gene provides instructions for making a protein called bestrophin-1, which appears to play a critical role in normal vision. Bestrophin-1 is found in a thin layer of cells at the back of the eye called the retinal pigment epithelium. This cell layer supports and nourishes the retina, which is the light-sensitive tissue that lines the back of the eye. The retinal pigment epithelium is involved in the growth and development of the eye, maintenance of the retina, and the normal function of specialized cells called photoreceptors that detect light and colour.
Bestrophin-1 functions as a channel across cell membranes in the retinal pigment epithelium. Charged chlorine atoms (chloride ions) are transported through these channels in response to cellular signals. Some studies suggest that bestrophin-1 may also help regulate the entry of charged calcium atoms (calcium ions) into cells of the retinal pigment epithelium. Other potential functions of bestrophin-1 are under study.
Conditions referring to this gene or chromosome
Otros nombres
BEST
BEST1_HUMAN
BMD
RP50
TU15B
vitelliform macular dystrophy 2 (Best disease, bestrophin)
VMD2
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Lecturas adicionales y referencias
- bestrophin 1; MedlinePlus, National Library of Medicine.
- Burgess R, MacLaren RE, Davidson AE, Urquhart JE, Holder GE, Robson AG, Moore AT, Keefe RO, Black GC, Manson FD. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet. 2009 Sep;46(9):620-5. doi: 10.1136/jmg.2008.059881. Epub 2008 Jul 8.
- Burgess R, Millar ID, Leroy BP, Urquhart JE, Fearon IM, De Baere E, Brown PD, Robson AG, Wright GA, Kestelyn P, Holder GE, Webster AR, Manson FD, Black GC. Biallelic mutation of BEST1 causes a distinct retinopathy in humans. Am J Hum Genet. 2008 Jan;82(1):19-31. doi: 10.1016/j.ajhg.2007.08.004.
- Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009 Nov;85(5):581-92. doi: 10.1016/j.ajhg.2009.09.015. Epub 2009 Oct 22.
- Hartzell C, Qu Z, Putzier I, Artinian L, Chien LT, Cui Y. Looking chloride channels straight in the eye: bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda). 2005 Oct;20:292-302. doi: 10.1152/physiol.00021.2005.
- Hartzell HC, Qu Z, Yu K, Xiao Q, Chien LT. Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. Physiol Rev. 2008 Apr;88(2):639-72. doi: 10.1152/physrev.00022.2007.
- Johnson AA, Lee YS, Chadburn AJ, Tammaro P, Manson FD, Marmorstein LY, Marmorstein AD. Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1. Exp Eye Res. 2014 Apr;121:74-85. doi: 10.1016/j.exer.2014.02.006. Epub 2014 Feb 19.
- Kramer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schutt F, Holz FG, Weber BH. 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. 2000 Apr;8(4):286-92. doi: 10.1038/sj.ejhg.5200447.
- Marmorstein AD, Kinnick TR. Focus on molecules: bestrophin (best-1). Exp Eye Res. 2007 Oct;85(4):423-4. doi: 10.1016/j.exer.2006.03.021. Epub 2006 May 23. No abstract available.
- Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C. Identification of the gene responsible for Best macular dystrophy. Nat Genet. 1998 Jul;19(3):241-7. doi: 10.1038/915.
- Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N, Weber BH, Kellner U, Foerster MH. Morphology and functional characteristics in adult vitelliform macular dystrophy. Retina. 2004 Dec;24(6):929-39. doi: 10.1097/00006982-200412000-00014.
- Renner AB, Tillack H, Kraus H, Kramer F, Mohr N, Weber BH, Foerster MH, Kellner U. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology. 2005 Apr;112(4):586-92. doi: 10.1016/j.ophtha.2004.10.041.
- Seddon JM, Afshari MA, Sharma S, Bernstein PS, Chong S, Hutchinson A, Petrukhin K, Allikmets R. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy. Ophthalmology. 2001 Nov;108(11):2060-7. doi: 10.1016/s0161-6420(01)00777-1.
- Sun H, Tsunenari T, Yau KW, Nathans J. The vitelliform macular dystrophy protein defines a new family of chloride channels. Proc Natl Acad Sci U S A. 2002 Mar 19;99(6):4008-13. doi: 10.1073/pnas.052692999.
- White K, Marquardt A, Weber BH. VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. Hum Mutat. 2000;15(4):301-8. doi: 10.1002/(SICI)1098-1004(200004)15:43.0.CO;2-N.
- Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, Perveen R, Reddy MA, Bhattacharya SS, Traboulsi E, Baralle D, De Laey JJ, Puech B, Kestelyn P, Moore AT, Manson FD, Black GC. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683-9. doi: 10.1167/iovs.04-0550.
- Yu K, Qu Z, Cui Y, Hartzell HC. Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration. Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4694-705. doi: 10.1167/iovs.07-0301.
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