{"title":"A review of the mechanisms underlying the role of the <i>GIPC3</i> gene in hereditary deafness.","authors":"Xinxin Li, Lin Shi, Liang Wang","doi":"10.3389/fnsyn.2022.1101587","DOIUrl":null,"url":null,"abstract":"<p><p>The GAIP interacting protein c terminus (<i>GIPC</i>) genes encode a small family of proteins characterized by centrally located PDZ domains. <i>GIPC3</i> encodes a 312 amino acid protein. Variants of human <i>GIPC3</i> are associated with non-syndromic hearing loss. <i>GIPC3</i> is one of over a hundred different genes with variants causing human deafness. Screening for variants of <i>GIPC3</i> is essential for early detection of hearing loss in children and eventually treatment of deafness. Accordingly, this paper assesses the status of research developments on the role of <i>GIPC3</i> in hereditary deafness and the effects of pathogenic variants on the auditory system.</p>","PeriodicalId":12650,"journal":{"name":"Frontiers in Synaptic Neuroscience","volume":"14 ","pages":"1101587"},"PeriodicalIF":2.8000,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872657/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Frontiers in Synaptic Neuroscience","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.3389/fnsyn.2022.1101587","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"NEUROSCIENCES","Score":null,"Total":0}
引用次数: 0
Abstract
The GAIP interacting protein c terminus (GIPC) genes encode a small family of proteins characterized by centrally located PDZ domains. GIPC3 encodes a 312 amino acid protein. Variants of human GIPC3 are associated with non-syndromic hearing loss. GIPC3 is one of over a hundred different genes with variants causing human deafness. Screening for variants of GIPC3 is essential for early detection of hearing loss in children and eventually treatment of deafness. Accordingly, this paper assesses the status of research developments on the role of GIPC3 in hereditary deafness and the effects of pathogenic variants on the auditory system.
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