'''Protein 5 nesindromskog oštećenja sluha''' jest [[protein]] koji je kod [[ljudi]] [[kodon|kodiran]] [[gen]]om  '''DFNA5''' sa p kraka [[hromosom 7|hromosoma 7]].<ref name="pmid8589696">{{cite journal | vauthors = van Camp G, Coucke P, Balemans W, van Velzen D, van de Bilt C, van Laer L, Smith RJ, Fukushima K, Padberg GW, Frants RR | title = Localization of a gene for non-syndromic hearing loss (DFNA5) to chromosome 7p15 | journal = Hum Mol Genet | volume = 4 | issue = 11 | pages = 2159–63 | date = Mar 1996 | pmid = 8589696 | doi = 10.1093/hmg/4.11.2159 | hdl = 2066/20568 | hdl-access = free }}</ref><ref name="pmid9450185">{{cite journal | vauthors = Van Laer L, Van Camp G, van Zuijlen D, Green ED, Verstreken M, Schatteman I, Van de Heyning P, Balemans W, Coucke P, Greinwald JH, Smith RJ, Huizing E, Willems P | title = Refined mapping of a gene for autosomal dominant progressive sensorineural hearing loss (DFNA5) to a 2-cM region, and exclusion of a candidate gene that is expressed in the cochlea | journal = Eur J Hum Genet | volume = 5 | issue = 6 | pages = 397–405 | date = Mar 1998 | pmid = 9450185 | doi =  10.1159/000484798}}</ref><ref name="entrez">{{cite web | title = Entrez Gene: DFNA5 deafness, autosomal dominant 5| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=1687}}</ref>
 
 
==Aminokiselinska sekvenca== 
Dužina [[polipeptid]]nog lanca je  496 [[aminokiselina]], a [[dalton (jedinica)|molekulska težina]]   54.555 [[dalton (jedinica)|Da]].<ref name="entrez"/>
{{legenda aminokiselina}} 
<table style="font-family:monospace;">
<tr style="text-align:right;"><th>10</th><th></th><th>20</th><th></th><th>30</th><th></th><th>40</th><th></th><th>50</th></tr>
<tr style="background-color: #eee;"><td>MFAKATRNFL</td><td style="background-color: #f9f9f9;"></td><td>REVDADGDLI</td><td style="background-color: #f9f9f9;"></td><td>AVSNLNDSDK</td><td style="background-color: #f9f9f9;"></td><td>LQLLSLVTKK</td><td style="background-color: #f9f9f9;"></td><td>KRFWCWQRPK</td></tr>
<tr style="background-color: #eee;"><td>YQFLSLTLGD</td><td style="background-color: #f9f9f9;"></td><td>VLIEDQFPSP</td><td style="background-color: #f9f9f9;"></td><td>VVVESDFVKY</td><td style="background-color: #f9f9f9;"></td><td>EGKFANHVSG</td><td style="background-color: #f9f9f9;"></td><td>TLETALGKVK</td></tr>
<tr style="background-color: #eee;"><td>LNLGGSSRVE</td><td style="background-color: #f9f9f9;"></td><td>SQSSFGTLRK</td><td style="background-color: #f9f9f9;"></td><td>QEVDLQQLIR</td><td style="background-color: #f9f9f9;"></td><td>DSAERTINLR</td><td style="background-color: #f9f9f9;"></td><td>NPVLQQVLEG</td></tr>
<tr style="background-color: #eee;"><td>RNEVLCVLTQ</td><td style="background-color: #f9f9f9;"></td><td>KITTMQKCVI</td><td style="background-color: #f9f9f9;"></td><td>SEHMQVEEKC</td><td style="background-color: #f9f9f9;"></td><td>GGIVGIQTKT</td><td style="background-color: #f9f9f9;"></td><td>VQVSATEDGN</td></tr>
<tr style="background-color: #eee;"><td>VTKDSNVVLE</td><td style="background-color: #f9f9f9;"></td><td>IPAATTIAYG</td><td style="background-color: #f9f9f9;"></td><td>VIELYVKLDG</td><td style="background-color: #f9f9f9;"></td><td>QFEFCLLRGK</td><td style="background-color: #f9f9f9;"></td><td>QGGFENKKRI</td></tr>
<tr style="background-color: #eee;"><td>DSVYLDPLVF</td><td style="background-color: #f9f9f9;"></td><td>REFAFIDMPD</td><td style="background-color: #f9f9f9;"></td><td>AAHGISSQDG</td><td style="background-color: #f9f9f9;"></td><td>PLSVLKQATL</td><td style="background-color: #f9f9f9;"></td><td>LLERNFHPFA</td></tr>
<tr style="background-color: #eee;"><td>ELPEPQQTAL</td><td style="background-color: #f9f9f9;"></td><td>SDIFQAVLFD</td><td style="background-color: #f9f9f9;"></td><td>DELLMVLEPV</td><td style="background-color: #f9f9f9;"></td><td>CDDLVSGLSP</td><td style="background-color: #f9f9f9;"></td><td>TVAVLGELKP</td></tr>
<tr style="background-color: #eee;"><td>RQQQDLVAFL</td><td style="background-color: #f9f9f9;"></td><td>QLVGCSLQGG</td><td style="background-color: #f9f9f9;"></td><td>CPGPEDAGSK</td><td style="background-color: #f9f9f9;"></td><td>QLFMTAYFLV</td><td style="background-color: #f9f9f9;"></td><td>SALAEMPDSA</td></tr>
<tr style="background-color: #eee;"><td>AALLGTCCKL</td><td style="background-color: #f9f9f9;"></td><td>QIIPTLCHLL</td><td style="background-color: #f9f9f9;"></td><td>RALSDDGVSD</td><td style="background-color: #f9f9f9;"></td><td>LEDPTLTPLK</td><td style="background-color: #f9f9f9;"></td><td>DTERFGIVQR</td></tr>
<tr style="background-color: #eee;"><td>LFASADISLE</td><td style="background-color: #f9f9f9;"></td><td>RLKSSVKAVI</td><td style="background-color: #f9f9f9;"></td><td>LKDSKVFPLL</td><td style="background-color: #f9f9f9;"></td><td>LCITLNGLCA</td><td style="background-color: #f9f9f9;"></td><td>LGREHS</td></tr>
</table>
 
== Funkcija ==
 
Oštećenje sluha je heterogeno stanje sa preko 40 opisanih lokusa. Protein koji je kodiran ovim genom eksprimiran je u fetusnoj [[pužnica|pužnici]], međutim, njegova funkcija nije poznata. Sa mutacijom ovog gena povezano je [[Nesindromska gluhoća|nesindromsko oštećenje sluha]].<ref name="entrez"/>
 
Opažanje da je DFNA5 [[epigenetika|epigenetički]] inaktiviran u velikom broju karcinoma čestih tipova ([[rak želuca|želuca]], [[rak debelog crijeva|debelog crijeva]] i [[rak dojke|dojke]]) je još jedan važan nalaz i u skladu je s njegovim svojstvima koja induciraju apoptozu. Zaista, ako je [[apoptoza]] unutrašnja karakteristika DFNA5, gašenje gena u tumorskim ćelijama čini ih podložnijim nekontroliranom ćelijskom rastu. Štaviše, činjenica da je DFNA5 reguliran putem [[P53]] snažno sugerira da je DFNA5 gen supresor tumora.<ref name = "de_Beeck_2012">{{cite journal | vauthors = de Beeck KO, Van Laer L, Van Camp G | title = DFNA5, a gene involved in hearing loss and cancer: a review | url = https://archive.org/details/sim_annals-of-otology-rhinology-laryngology_2012-03_121_3/page/n60 | journal = The Annals of Otology, Rhinology, and Laryngology | volume = 121 | issue = 3 | pages = 197–207 | date = Mar 2012 | pmid = 22530481 | doi = 10.1177/000348941212100310 | s2cid = 32637216 }}</ref>
 
== Reference ==
{{reflist}}
{{Clear}}
 
== Dopunska literatura ==
{{refbegin|33em}}
* {{cite journal | vauthors = Andersson B, Wentland MA, Ricafrente JY, Liu W, Gibbs RA | title = A "double adaptor" method for improved shotgun library construction | journal = Anal. Biochem. | volume = 236 | issue = 1 | pages = 107–13 | year = 1996 | pmid = 8619474 | doi = 10.1006/abio.1996.0138 }}
* {{cite journal | vauthors = Yu W, Andersson B, Worley KC, Muzny DM, Ding Y, Liu W, Ricafrente JY, Wentland MA, Lennon G, Gibbs RA | title = Large-scale concatenation cDNA sequencing | journal = Genome Res. | volume = 7 | issue = 4 | pages = 353–8 | year = 1997 | pmid = 9110174 | pmc = 139146 | doi = 10.1101/gr.7.4.353 }}
* {{cite journal | vauthors = Thompson DA, Weigel RJ | title = Characterization of a gene that is inversely correlated with estrogen receptor expression (ICERE-1) in breast carcinomas | journal = Eur. J. Biochem. | volume = 252 | issue = 1 | pages = 169–77 | year = 1998 | pmid = 9523727 | doi = 10.1046/j.1432-1327.1998.2520169.x }}
* {{cite journal | vauthors = Van Laer L, Huizing EH, Verstreken M, van Zuijlen D, Wauters JG, Bossuyt PJ, Van de Heyning P, McGuirt WT, Smith RJ, Willems PJ, Legan PK, Richardson GP, Van Camp G | title = Nonsyndromic hearing impairment is associated with a mutation in DFNA5 | journal = Nat. Genet. | volume = 20 | issue = 2 | pages = 194–7 | year = 1998 | pmid = 9771715 | doi = 10.1038/2503 | s2cid = 23534085 }}
* {{cite journal | vauthors = Grottke C, Mantwill K, Dietel M, Schadendorf D, Lage H | title = Identification of differentially expressed genes in human melanoma cells with acquired resistance to various antineoplastic drugs | journal = Int. J. Cancer | volume = 88 | issue = 4 | pages = 535–46 | year = 2000 | pmid = 11058868 | doi = 10.1002/1097-0215(20001115)88:4<535::AID-IJC4>3.0.CO;2-V | s2cid = 24030621 }}
* {{cite journal | vauthors = Van Laer L, DeStefano AL, Myers RH, Flothmann K, Thys S, Fransen E, Gates GA, Van Camp G, Baldwin CT | title = Is DFNA5 a susceptibility gene for age-related hearing impairment? | journal = Eur. J. Hum. Genet. | volume = 10 | issue = 12 | pages = 883–6 | year = 2003 | pmid = 12461698 | doi = 10.1038/sj.ejhg.5200878 | doi-access = free }}
* {{cite journal | vauthors = Gregan J, Van Laer L, Lieto LD, Van Camp G, Kearsey SE | title = A yeast model for the study of human DFNA5, a gene mutated in nonsyndromic hearing impairment | journal = Biochim. Biophys. Acta | volume = 1638 | issue = 2 | pages = 179–86 | year = 2003 | pmid = 12853124 | doi = 10.1016/s0925-4439(03)00083-8 | doi-access = free }}
* {{cite journal | vauthors = Yu C, Meng X, Zhang S, Zhao G, Hu L, Kong X | title = A 3-nucleotide deletion in the polypyrimidine tract of intron 7 of the DFNA5 gene causes nonsyndromic hearing impairment in a Chinese family | journal = Genomics | volume = 82 | issue = 5 | pages = 575–9 | year = 2004 | pmid = 14559215 | doi = 10.1016/S0888-7543(03)00175-7 }}
* {{cite journal | vauthors = Bischoff AM, Luijendijk MW, Huygen PL, van Duijnhoven G, De Leenheer EM, Oudesluijs GG, Van Laer L, Cremers FP, Cremers CW, Kremer H | title = A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation | journal = Audiol. Neurootol. | volume = 9 | issue = 1 | pages = 34–46 | year = 2004 | pmid = 14676472 | doi = 10.1159/000074185 | s2cid = 20139112 }}
* {{cite journal | vauthors = Masuda Y, Futamura M, Kamino H, Nakamura Y, Kitamura N, Ohnishi S, Miyamoto Y, Ichikawa H, Ohta T, Ohki M, Kiyono T, Egami H, Baba H, Arakawa H | title = The potential role of DFNA5, a hearing impairment gene, in p53-mediated cellular response to DNA damage | journal = J. Hum. Genet. | volume = 51 | issue = 8 | pages = 652–64 | year = 2006 | pmid = 16897187 | doi = 10.1007/s10038-006-0004-6 | doi-access = free }}
* {{cite journal | vauthors = Van Laer L, Meyer NC, Malekpour M, Riazalhosseini Y, Moghannibashi M, Kahrizi K, Vandevelde A, Alasti F, Najmabadi H, Van Camp G, Smith RJ | title = A novel DFNA5 mutation does not cause hearing loss in an Iranian family | journal = J. Hum. Genet. | volume = 52 | issue = 6 | pages = 549–52 | year = 2007 | pmid = 17427029 | doi = 10.1007/s10038-007-0137-2 | s2cid = 24786210 }}
{{refend}}
 
== Vanjski linkovi ==
* [https://www.ncbi.nlm.nih.gov/books/NBK1434/  GeneReviews/NCBI/NIH/UW entry on Deafness and Hereditary Hearing Loss Overview]