usherin
Última actualización 8 de mayo de 2023
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El USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Usherin is found in basement membranes in the inner ear and in the retina, which is the layer of light-sensitive tissue at the back of the eye. Although the function of usherin has not been well established, studies suggest that it is part of a group of proteins (a protein complex) that plays an important role in the development and maintenance of cells in the inner ear and retina. The protein complex may also be involved in the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.
Normal function
El USH2A gene provides instructions for making a protein called usherin. Usherin is an important component of basement membranes, which are thin, sheet-like structures that separate and support cells in many tissues. Usherin is found in basement membranes in the inner ear and in the retina, which is the layer of light-sensitive tissue at the back of the eye. Although the function of usherin has not been well established, studies suggest that it is part of a group of proteins (a protein complex) that plays an important role in the development and maintenance of cells in the inner ear and retina. The protein complex may also be involved in the function of synapses, which are junctions between nerve cells where cell-to-cell communication occurs.
Conditions referring to this gene or chromosome
Otros nombres
US2
USH2
USH2A_HUMAN
Lecturas adicionales y referencias
- usherin; MedlinePlus, National Library of Medicine.
- Bhattacharya G, Miller C, Kimberling WJ, Jablonski MM, Cosgrove D. Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa. Hear Res. 2002 Jan;163(1-2):1-11. doi: 10.1016/s0378-5955(01)00344-6.
- Blanco-Kelly F, Jaijo T, Aller E, Avila-Fernandez A, Lopez-Molina MI, Gimenez A, Garcia-Sandoval B, Millan JM, Ayuso C. Clinical aspects of Usher syndrome and the USH2A gene in a cohort of 433 patients. JAMA Ophthalmol. 2015 Feb;133(2):157-64. doi: 10.1001/jamaophthalmol.2014.4498.
- Bujakowska KM, Liu Q, Pierce EA. Photoreceptor Cilia and Retinal Ciliopathies. Cold Spring Harb Perspect Biol. 2017 Oct 3;9(10):a028274. doi: 10.1101/cshperspect.a028274.
- Chen X, Sheng X, Liu X, Li H, Liu Y, Rong W, Ha S, Liu W, Kang X, Zhao K, Zhao C. Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis. PLoS One. 2014 Aug 18;9(8):e105439. doi: 10.1371/journal.pone.0105439. eCollection 2014.
- Koenekoop R, Arriaga M, Trzupek KM, Lentz J. Usher Syndrome Type II. 1999 Dec 10 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1341/
- Liu X, Bulgakov OV, Darrow KN, Pawlyk B, Adamian M, Liberman MC, Li T. Usherin is required for maintenance of retinal photoreceptors and normal development of cochlear hair cells. Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4413-8. doi: 10.1073/pnas.0610950104. Epub 2007 Mar 5.
- McGee TL, Seyedahmadi BJ, Sweeney MO, Dryja TP, Berson EL. Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet. 2010 Jul;47(7):499-506. doi: 10.1136/jmg.2009.075143. Epub 2010 May 27.
- O'Neal TB, Tripathy K, Luther EE. Retinitis Pigmentosa. 2024 Feb 12. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK519518/
- Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL. Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci. 2008 Dec;49(12):5532-9. doi: 10.1167/iovs.08-2009. Epub 2008 Jul 18.
- Toualbi L, Toms M, Moosajee M. USH2A-retinopathy: From genetics to therapeutics. Exp Eye Res. 2020 Dec;201:108330. doi: 10.1016/j.exer.2020.108330. Epub 2020 Oct 27.
- van Wijk E, Pennings RJ, te Brinke H, Claassen A, Yntema HG, Hoefsloot LH, Cremers FP, Cremers CW, Kremer H. Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II. Am J Hum Genet. 2004 Apr;74(4):738-44. doi: 10.1086/383096. Epub 2004 Mar 10.
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