Usherin is a
protein that in humans is encoded by the USH2Agene.[5][6]
This gene encodes the protein Usherin that contains
laminin EGF motifs, a
pentraxin domain, and many
fibronectin type III motifs. The encoded
basement membrane-associated protein may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with
Usher syndrome type IIa. Alternatively spliced transcript variants that encode different isoforms have been described.[7]
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^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
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1998Sci...280.1753E.
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10.1126/science.280.5370.1753.
PMID9624053.
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doi:
10.1006/exer.2000.0978.
PMID11311042.
Bhattacharya G, Miller C, Kimberling WJ, et al. (2002). "Localization and expression of usherin: a novel basement membrane protein defective in people with Usher's syndrome type IIa". Hear. Res. 163 (1–2): 1–11.
doi:
10.1016/S0378-5955(01)00344-6.
PMID11788194.
S2CID25738905.
Huang D, Eudy JD, Uzvolgyi E, et al. (2003). "Identification of the mouse and rat orthologs of the gene mutated in Usher syndrome type IIA and the cellular source of USH2A mRNA in retina, a target tissue of the disease". Genomics. 80 (2): 195–203.
doi:
10.1006/geno.2002.6823.
PMID12160733.
Rivolta C, Berson EL, Dryja TP (2002). "Paternal uniparental heterodisomy with partial isodisomy of chromosome 1 in a patient with retinitis pigmentosa without hearing loss and a missense mutation in the Usher syndrome type II gene USH2A". Arch. Ophthalmol. 120 (11): 1566–71.
doi:
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PMID12427073.
S2CID12112879.
Bhattacharya G, Kalluri R, Orten DJ, et al. (2004). "A domain-specific usherin/collagen IV interaction may be required for stable integration into the basement membrane superstructure". J. Cell Sci. 117 (Pt 2): 233–42.
doi:
10.1242/jcs.00850.
PMID14676276.
S2CID26953433.