Connexin disorders of the ear, skin, and lens.
Gap junctions provide coupled cells with a direct pathway for sharing ions, nutrients, and small metabolites, thus helping to maintain homeostasis in various tissues. Abnormal function and/or expression of specific connexin genes has been linked to several diseases, including genetic deafness, skin disease, peripheral neuropathies, and cataracts. Research has provided significant insight into the function of gap junction proteins in both in vitro and in vivo models; however, questions regarding the exact mechanisms by which connexin related diseases occur in mammalian systems remain. Here, we discuss the disease states that are related to three human connexin genes, Cx26 (GJB2), Cx46 (GJA3) and Cx50 (GJA8), and recent scientific evidence characterizing those diseases in various experimental models.
Gerido
Dwan A
DA
Department of Physiology and Biophysics, State University of New York, T5-147, Basic Science Tower, Stony Brook, NY 11794-8661, USA.
White
Thomas W
TW
D000072259:Connexin 26; D017630:Connexins / Q000145:classification / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D004427:Ear Diseases / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D006801:Humans; D007908:Lens, Crystalline; D010802:Phylogeny; D012871:Skin Diseases / Q000235:genetics*
D017630:Connexins; C000607042:GJB2 protein, human; D000072259:Connexin 26