Harmonin: Difference between revisions
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Michal Harel (talk | contribs) New page: <StructureSection load='1stp' size='340' side='right' caption='Caption for this structure' scene=''> == Function == <ref>PMID:12906827</ref> == Disease == == Relevance == == Structu... |
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<StructureSection load='3k1r' size='340' side='right' caption='Human harmonin N-terminal and PDZ1 domain (grey) complex with Usher syndrome type 1G protein (green) (PDB code [[3k1r]])' scene=''> | |||
<StructureSection load=' | |||
== Function == | == Function == | ||
<ref>PMID: | '''Harmonin''' (Harm) is a scaffold PDZ-containing protein which integrates three Usher syndrome (USH) type proteins to USH1-protein network<ref>PMID:16301216</ref>. Harm and cadherin 23 form a complex by PDZ domain interactions<ref>PMID:1630121</ref>. | ||
== Disease == | == Disease == | ||
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. | |||
== Relevance == | == Relevance == | ||
Revision as of 12:40, 11 December 2017
FunctionHarmonin (Harm) is a scaffold PDZ-containing protein which integrates three Usher syndrome (USH) type proteins to USH1-protein network[1]. Harm and cadherin 23 form a complex by PDZ domain interactions[2]. DiseaseA defect in harmonin which is expressed in the inner ear hair cells causes USH type 1C[3]. Defects in the formation of USH-protein complex are predicted to disrupt stereocilia bundles and cause deafness in USH1 patients. RelevanceStructural highlights |
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3D Structures of harmonin3D Structures of harmonin
Updated on 11-December-2017
ReferencesReferences
- ↑ 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