1ufx: Difference between revisions

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[[Image:1ufx.png|left|200px]]
{{STRUCTURE_1ufx|  PDB=1ufx  |  SCENE=  }}  
{{STRUCTURE_1ufx|  PDB=1ufx  |  SCENE=  }}  
===Solution structure of the third PDZ domain of human KIAA1526 protein===


===Solution structure of the third PDZ domain of human KIAA1526 protein===
==Disease==
[[http://www.uniprot.org/uniprot/WHRN_HUMAN WHRN_HUMAN]] Defects in DFNB31 are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:[http://omim.org/entry/607084 607084]]. DFNB31 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:11973626</ref><ref>PMID:12833159</ref><ref>PMID:15841483</ref>  Defects in DFNB31 are the cause of Usher syndrome type 2D (USH2D) [MIM:[http://omim.org/entry/611383 611383]]. 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.


==Function==
[[http://www.uniprot.org/uniprot/WHRN_HUMAN WHRN_HUMAN]] Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (By similarity).


==About this Structure==
==About this Structure==
[[1ufx]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1UFX OCA].  
[[1ufx]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1UFX OCA].  
==Reference==
<references group="xtra"/><references/>
[[Category: Homo sapiens]]
[[Category: Homo sapiens]]
[[Category: Aoki, M.]]
[[Category: Aoki, M.]]

Revision as of 19:48, 24 March 2013

Template:STRUCTURE 1ufx

Solution structure of the third PDZ domain of human KIAA1526 proteinSolution structure of the third PDZ domain of human KIAA1526 protein

DiseaseDisease

[WHRN_HUMAN] Defects in DFNB31 are the cause of deafness autosomal recessive type 31 (DFNB31) [MIM:607084]. DFNB31 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.[1][2][3] Defects in DFNB31 are the cause of Usher syndrome type 2D (USH2D) [MIM:611383]. 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). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.

FunctionFunction

[WHRN_HUMAN] Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear (By similarity).

About this StructureAbout this Structure

1ufx is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.

ReferenceReference

  1. ↑ Mustapha M, Chouery E, Chardenoux S, Naboulsi M, Paronnaud J, Lemainque A, Megarbane A, Loiselet J, Weil D, Lathrop M, Petit C. DFNB31, a recessive form of sensorineural hearing loss, maps to chromosome 9q32-34. Eur J Hum Genet. 2002 Mar;10(3):210-2. PMID:11973626 doi:10.1038/sj.ejhg.5200780
  2. ↑ Mburu P, Mustapha M, Varela A, Weil D, El-Amraoui A, Holme RH, Rump A, Hardisty RE, Blanchard S, Coimbra RS, Perfettini I, Parkinson N, Mallon AM, Glenister P, Rogers MJ, Paige AJ, Moir L, Clay J, Rosenthal A, Liu XZ, Blanco G, Steel KP, Petit C, Brown SD. Defects in whirlin, a PDZ domain molecule involved in stereocilia elongation, cause deafness in the whirler mouse and families with DFNB31. Nat Genet. 2003 Aug;34(4):421-8. PMID:12833159 doi:10.1038/ng1208
  3. ↑ Tlili A, Charfedine I, Lahmar I, Benzina Z, Mohamed BA, Weil D, Idriss N, Drira M, Masmoudi S, Ayadi H. Identification of a novel frameshift mutation in the DFNB31/WHRN gene in a Tunisian consanguineous family with hereditary non-syndromic recessive hearing loss. Hum Mutat. 2005 May;25(5):503. PMID:15841483 doi:10.1002/humu.9333

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