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Article

Evaluation of the pathogenicity of GJB3 and GJB6 variants associated with nonsyndromic hearing loss.

Biochimica et biophysica acta - 1 Jan 2013

Oh Se-Kyung, Choi Soo-Young, Yu Song Hee, Lee Kyu-Yup, Hong Jeong Hwa, Hur Sung Won, Kim Sang Jeong, Jeon Chang-Jin, Kim Un-Kyung

Abstract excerpt

A number of genes responsible for hearing loss are related to ion recycling and homeostasis in the inner ear. Connexins (Cx26 encoded by GJB2, Cx31 encoded by GJB3 and Cx30 encoded by GJB6) are core components of gap junctions in the inner ear. Gap junctions are intercellular communication channels and important factors that are associated with hearing loss. To date, a molecular genetics study of GJB3 and GJB6 as...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22617145
DOI: 10.1016/j.bbadis.2012.05.009

Genes

GJB3
GJB6
GJB2

Provenance

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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