形式 |
This gene is a member of the myosin gene family. Myosins are mechanochemical proteins characterized by the presence of a motor domain, an actin-binding domain, a neck domain that interacts with other proteins, and a tail domain that serves as an anchor. This gene encodes an unconventional myosin with a very short tail. Defects in this gene are associated with the mouse shaker-1 phenotype and the human Usher syndrome 1B which are characterized by deafness, reduced vestibular function, and (in human) retinal degeneration. Alternative splicing results in multiple transcript variants.
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復(fù)溶 |
Human variation in alcohol response is influenced by variation in neuronal signaling genes. Joslyn G, et al. Alcohol Clin Exp Res, 2010 May. PMID 20201926.Integrative predictive model of coronary artery calcification in atherosclerosis. McGeachie M, et al. Circulation, 2009 Dec 15. PMID 19948975.Microarray-based mutation analysis of 183 Spanish families with Usher syndrome. Jaijo T, et al. Invest Ophthalmol Vis Sci, 2010 Mar. PMID 19683999.Molecular screening of deafness in Algeria: high genetic heterogeneity involving DFNB1 and the Usher loci, DFNB2/USH1B, DFNB12/USH1D and DFNB23/USH1F. Ammar-Khodja F, et al. Eur J Med Genet, 2009 Jul-Aug. PMID 19375528.Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence. Gibbs D, et al. Invest Ophthalmol Vis Sci, 2009 Sep. PMID 19324852.
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