Connexin: Difference between revisions
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<StructureSection load='2ZW3' size='340' side='right' caption='Connexon structure' scene='> | <StructureSection load='2ZW3' size='340' side='right' caption='Connexon's structure' scene='> | ||
=Introduction= | =Introduction= | ||
[http://en.wikipedia.org/wiki/Connexin Connexins] are integral transmembrane [http://en.wikipedia.org/wiki/Protein proteins] that form intercellular channels in [http://en.wikipedia.org/wiki/Vertebrate vertebrates]. Connexin 26 is encoded by the [http://www.uniprot.org/uniprot/P29033 GJB2 gene]. Six connexins form a hexamerical assembly, known as [http://en.wikipedia.org/wiki/Connexon a connexon] or a hemichannel, which form an intercellular [http://en.wikipedia.org/wiki/Gap_junction gap junction channel]. Gap junctions are specialized membrane regions containing hundreds of intercellular communication channels that allow the passage of molecules such as ions, metabolites, nucleotides and small peptides. Virtually all cells in solid tissues are coupled by gap junctions, thus it is not surprising that mutations in connexin genes have been linked to a variety of [http://omim.org/entry/121011?search=gjb2%20deafness-causing&highlight=deafnesscausing%20deafness%20gjb2%20deaf%20causing Connexin human diseases], including cardiovascular anomalies, peripheral neuropathy, skin disorders, [http://en.wikipedia.org/wiki/Cataract cataracts], and deafness. | [http://en.wikipedia.org/wiki/Connexin Connexins] are integral transmembrane [http://en.wikipedia.org/wiki/Protein proteins] that form intercellular channels in [http://en.wikipedia.org/wiki/Vertebrate vertebrates]. Connexin 26 is encoded by the [http://www.uniprot.org/uniprot/P29033 GJB2 gene]. Six connexins form a hexamerical assembly, known as [http://en.wikipedia.org/wiki/Connexon a connexon] or a hemichannel, which form an intercellular [http://en.wikipedia.org/wiki/Gap_junction gap junction channel]. Gap junctions are specialized membrane regions containing hundreds of intercellular communication channels that allow the passage of molecules such as ions, metabolites, nucleotides and small peptides. Virtually all cells in solid tissues are coupled by gap junctions, thus it is not surprising that mutations in connexin genes have been linked to a variety of [http://omim.org/entry/121011?search=gjb2%20deafness-causing&highlight=deafnesscausing%20deafness%20gjb2%20deaf%20causing Connexin human diseases], including cardiovascular anomalies, peripheral neuropathy, skin disorders, [http://en.wikipedia.org/wiki/Cataract cataracts], and deafness. | ||