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Article

Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.

Acta oto-laryngologica - 1 Jan 2011

Xiao Zian, Yang Zhongchun, Liu Xuezhong, Xie Dinghua

Abstract excerpt

CONCLUSION: This study demonstrated that five Cx26 mutations (R32H, S199F, 572delT, 631-632delGT, and Y155X) affect gap junction (GJ) functions by causing impaired membrane targeting and aberrant cellular localization, and one mutation (R165W) leads to a constriction of the channel pore with no dye coupling. OBJECTIVE: To investigate the pathogenetic roles of six recessive Cx26 mutations (p.R32H, p.R165W,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20863150
DOI: 10.3109/00016489.2010.506885

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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