Connexin gene mutations in human genetic diseases

Mutat Res. 2000 Apr;462(2-3):197-207. doi: 10.1016/s1383-5742(00)00037-5.


Rapid advances in understanding the molecular biology of the gap junctional proteins - connexins (Cx) - have revealed that these proteins are indispensable for various cellular functions. Recent findings that mutational alterations of Cx genes leads to several quite different human diseases provide additional evidence that these proteins possess several not yet fully understood functions. Many different mutations of Cx32 have been found in the hereditary peripheral neuropathy - X-linked Charcot-Marie-Tooth syndrome and several mutations of Cx26 and Cx31 have been detected in deafness. Individual mutations of Cx46, Cx50 and Cx43 have been found in cataract or heart malformations. In this review, we analyzed the functional importance of mutations of different Cx described in different human diseases. Topological comparison of mutations in different Cx species has revealed several hot spots, where mutations are common for two different Cx or diseases. The value of Cx mutations associated with diseases for understanding Cx functions is discussed.

Publication types

  • Review

MeSH terms

  • Cataract / congenital
  • Cataract / genetics*
  • Connexin 26
  • Connexins / genetics*
  • Deafness / genetics*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Mutation
  • Skin Diseases / genetics*


  • Connexins
  • GJB2 protein, human
  • Connexin 26