Connexinopathies: A structural and functional glimpse

Isaac E. García, Pavel Prado, Amaury Pupo, Oscar Jara, Diana Rojas-Gómez, Paula Mujica, Carolina Flores-Muñoz, Jorge González-Casanova, Carolina Soto-Riveros, Bernardo I. Pinto, Mauricio A. Retamal, Carlos González, Agustín D. Martínez

Research output: Contribution to journalReview articlepeer-review

38 Citations (Scopus)


Mutations in human connexin (Cx) genes have been related to diseases, which we termed connexinopathies. Such hereditary disorders include nonsyndromic or syndromic deafness (Cx26, Cx30), Charcot Marie Tooth disease (Cx32), occulodentodigital dysplasia and cardiopathies (Cx43), and cataracts (Cx46, Cx50). Despite the clinical phenotypes of connexinopathies have been well documented, their pathogenic molecular determinants remain elusive. The purpose of this work is to identify common/uncommon patterns in channels function among Cx mutations linked to human diseases. To this end, we compiled and discussed the effect of mutations associated to Cx26, Cx32, Cx43, and Cx50 over gap junction channels and hemichannels, highlighting the function of the structural channel domains in which mutations are located and their possible role affecting oligomerization, gating and perm/selectivity processes.

Original languageEnglish
Article number17
JournalBMC Cell Biology
Issue number1
Publication statusPublished - 24 May 2016


  • Connexins
  • Gap junction channels
  • Hemichannels
  • Human genetic disease
  • Structure and function

ASJC Scopus subject areas

  • Cell Biology


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