title: The role of connexins in human disease.
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.
authors.affiliation: Molecular Otolaryngology Research Laboratories, Dept of Otolaryngology, University of Iowa, USA.
authors.forename: Eugene H
authors.initials: EH
authors.lastname: Chang
authors.forename: Guy
authors.initials: G
authors.lastname: Van Camp
authors.forename: Richard J H
authors.initials: RJ
authors.lastname: Smith
mesh_terms: D000072259:Connexin 26; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics* / Q000503:physiopathology*; D004423:Ear / Q000503:physiopathology; D016326:Extracellular Matrix Proteins / Q000235:genetics*; D005123:Eye / Q000503:physiopathology; D058851:GPI-Linked Proteins; D017629:Gap Junctions / Q000235:genetics*; D005820:Genetic Testing; D014644:Genetic Variation; D006801:Humans; D007473:Ion Channels / Q000235:genetics; D008562:Membrane Glycoproteins / Q000235:genetics*; D009154:Mutation; D009420:Nervous System / Q000503:physiopathology; D010641:Phenotype
chemical_list: D017630:Connexins; D016326:Extracellular Matrix Proteins; C000607042:GJB2 protein, human; D058851:GPI-Linked Proteins; D007473:Ion Channels; D008562:Membrane Glycoproteins; C491350:TECTA protein, human; D000072259:Connexin 26