Chapter 20: Hereditary Human Diseases Caused by Connexin Mutations

摘要: Publisher Summary The connexins comprise a family of homologous integral membrane proteins that form channels providing low resistance pathway for the diffusion small ions and nonelectrolytes between coupled cells. These channels, generally occurring in clusters constitute gap junctions, provide an important intercellular signaling many tissues. connexin contains at least 16 genes, mutations five them have now been shown to be responsible hereditary human diseases. Thus, join company channel-forming proteins, when mutated cause disease. Mutations each genes will ultimately found reduce fitness, disease, or lead embryonic lethality. This chapter discusses disease-causing genes: Cx26 gene nonsyndromic deafness; Cx31 erythrokeratodermia encoding Cx32 peripheral neuropathy, X-linked Charcot-Marie-Tooth disease (CMTX); Cx46 Cx50 cataracts. describes clinical manifestations inherited junction diseases humans comments on possible molecular cellular bases pathophysiology these disorders.