2kbr: Difference between revisions

<StructureSection load='2kbr' size='340' side='right' caption='[[2kbr]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>

<table><tr><td colspan='2'>[[2kbr]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2KBR OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2KBR FirstGlance]. <br>

</td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[2kbq|2kbq]], [[2kbs|2kbs]]</td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">HARMONIN ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN]), Cadherin23 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=2kbr FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2kbr OCA], [http://pdbe.org/2kbr PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2kbr RCSB], [http://www.ebi.ac.uk/pdbsum/2kbr PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2kbr ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Defects in USH1C are the cause of Usher syndrome type 1C (USH1C) [MIM:[http://omim.org/entry/276904 276904]]; also known as Usher syndrome type I Acadian variety. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.<ref>PMID:10973247</ref>  Defects in USH1C are the cause of deafness, autosomal recessive, 18A (DFNB18A) [MIM:[http://omim.org/entry/602092 602092]]. A form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:12107438</ref>  [[http://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Defects in CDH23 are the cause of Usher syndrome type 1D (USH1D) [MIM:[http://omim.org/entry/601067 601067]]. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness.<ref>PMID:11138009</ref> <ref>PMID:12075507</ref> <ref>PMID:15660226</ref> <ref>PMID:15537665</ref> <ref>PMID:16679490</ref> <ref>PMID:18429043</ref>  Defects in CDH23 are a cause of Usher syndrome type 1D/F (USH1DF) [MIM:[http://omim.org/entry/601067 601067]]. USH1DF patients are heterozygous for mutations in CDH23 and PCDH15, indicating a digenic inheritance pattern.<ref>PMID:15537665</ref>  Defects in CDH23 are the cause of deafness autosomal recessive type 12 (DFNB12) [MIM:[http://omim.org/entry/601386 601386]]. DFNB12 is a form of sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.<ref>PMID:12075507</ref> <ref>PMID:16679490</ref> <ref>PMID:11090341</ref> <ref>PMID:12522556</ref> <ref>PMID:15829536</ref> <ref>PMID:17850630</ref>   

[[http://www.uniprot.org/uniprot/USH1C_HUMAN USH1C_HUMAN]] Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing (By similarity). [[http://www.uniprot.org/uniprot/CAD23_HUMAN CAD23_HUMAN]] Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells. CDH23 is required for establishing and/or maintaining the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during late embryonic/early postnatal development. It is part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.  

*[[Cadherin|Cadherin]]