The role of connexins in human disease

Eugene H. Chang, Guy Van Camp, Richard J.H. Smith

Research output: Contribution to journalReview articlepeer-review

55 Scopus citations

Abstract

Connexins are the building blocks of gap junctions. In forming a gap junction, six connexins oligomerize to form a hexameric torus called a connexon. The number of gap junctions in a cell ranges from a few to over 105 and imparts to interconnected cells a uniform phenotype. The crucial role that gap junctions play in normal physiology is reflected by the diverse spectrum of human diseases in which allele variants of different gap junction genes are implicated. In particular, mutations in GJB2 are a major cause of autosomal recessive non-syndromic deafness. This discovery has impacted medical practice and makes it incumbent on clinicians to familiarize themselves with the genetic advances that are rapidly occurring in our field.

Original languageEnglish (US)
Pages (from-to)314-323
Number of pages10
JournalEar and hearing
Volume24
Issue number4
DOIs
StatePublished - Aug 2003
Externally publishedYes

ASJC Scopus subject areas

  • Otorhinolaryngology
  • Speech and Hearing

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