Harmonin
From Proteopedia
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A defect in harmonin which is expressed in the inner ear hair cells causes USH type 1C<ref>PMID:12407180</ref>. Defects in the formation of USH-protein complex are predicted to disrupt stereocilia bundles and cause deafness in USH1 patients. | A defect in harmonin which is expressed in the inner ear hair cells causes USH type 1C<ref>PMID:12407180</ref>. Defects in the formation of USH-protein complex are predicted to disrupt stereocilia bundles and cause deafness in USH1 patients. | ||
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| - | == Relevance == | ||
== Structural highlights == | == Structural highlights == | ||
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| + | Harm R103 forms a salt bridge with D458 of Usher syndrome type 1G protein and S115 forms hydrogen bond with it. The mutation of D458V in the Usher syndrome type 1G protein causes deaf-blindness<ref>PMID:20142502</ref>. | ||
Revision as of 09:55, 11 December 2017
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3D Structures of harmonin
Updated on 11-December-2017
References
- ↑ Reiners J, van Wijk E, Marker T, Zimmermann U, Jurgens K, te Brinke H, Overlack N, Roepman R, Knipper M, Kremer H, Wolfrum U. Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2. Hum Mol Genet. 2005 Dec 15;14(24):3933-43. Epub 2005 Nov 21. PMID:16301216 doi:http://dx.doi.org/ddi417
- ↑ de Roulet AM. [An evaluation instrument: the RAI--Resident Assessment Instrument]. Krankenpfl Soins Infirm. 1992 Jun;85(6):25-7. PMID:1630121
- ↑ Siemens J, Kazmierczak P, Reynolds A, Sticker M, Littlewood-Evans A, Muller U. The Usher syndrome proteins cadherin 23 and harmonin form a complex by means of PDZ-domain interactions. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14946-51. doi:, 10.1073/pnas.232579599. Epub 2002 Oct 29. PMID:12407180 doi:http://dx.doi.org/10.1073/pnas.232579599
- ↑ Yan J, Pan L, Chen X, Wu L, Zhang M. The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins. Proc Natl Acad Sci U S A. 2010 Feb 8. PMID:20142502
