USH1G explained
Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.[1]
This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G).[2]
Further reading
- Ahmed ZM, Riazuddin S, Riazuddin S, Wilcox ER . The molecular genetics of Usher syndrome. . Clin. Genet. . 63 . 6 . 431–44 . 2004 . 12786748 . 10.1034/j.1399-0004.2003.00109.x . 21024265 .
- Ahmed ZM, Riazuddin S, Bernstein SL, etal . Mutations of the protocadherin gene PCDH15 cause Usher syndrome type 1F. . Am. J. Hum. Genet. . 69 . 1 . 25–34 . 2001 . 11398101 . 10.1086/321277 . 1226045 .
- Mustapha M, Chouery E, Torchard-Pagnez D, etal . A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25. . Hum. Genet. . 110 . 4 . 348–50 . 2002 . 11941484 . 10.1007/s00439-002-0690-x . 26187816 .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
- Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
- Ouyang XM, Yan D, Du LL, etal . Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population. . Hum. Genet. . 116 . 4 . 292–9 . 2005 . 15660226 . 10.1007/s00439-004-1227-2 . 22812718 .
- Kalay E, de Brouwer AP, Caylan R, etal . A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome. . J. Mol. Med. . 83 . 12 . 1025–32 . 2006 . 16283141 . 10.1007/s00109-005-0719-4 . 41415771 .
External links
Notes and References
- Weil D, El-Amraoui A, Masmoudi S, Mustapha M, Kikkawa Y, Laine S, Delmaghani S, Adato A, Nadifi S, Zina ZB, Hamel C, Gal A, Ayadi H, Yonekawa H, Petit C . Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin . Hum Mol Genet . 12 . 5 . 463–71 . Feb 2003 . 12588794 . 10.1093/hmg/ddg051 . USH1C . free .
- Web site: Entrez Gene: USH1G Usher syndrome 1G (autosomal recessive).