Connexin: Difference between revisions
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<StructureSection load='2ZW3' size='340' side='right' caption='Caption for this structure' scene=''> | <StructureSection load='2ZW3' size='340' side='right' caption='Caption for this structure' scene=''> | ||
=Introduction= | =Introduction= | ||
[http://en.wikipedia.org/wiki/Connexin Connexins] are integral transmembrane [http://en.wikipedia.org/wiki/Protein proteins] that form [http://www.ncbi.nlm.nih.gov/pubmed/7522674 intercellular channels] in [http://www.ucmp.berkeley.edu/vertebrates/vertintro.html vertebrates]. Six connexins form a hexamerical assembly, known as [http://en.wikipedia.org/wiki/Connexon connexon] or hemichannel, may form an intercellular [http://www.uniprot.org/uniprot/P29033 gap junction channel] which spans the two plasma membranes and allows the exchange of cytoplasmic molecules. The importance of electrical and molecular signaling through gap junction channels is widely recognized . 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, cataracts, and deafness. Of notice, about half of all cases of human deafness in countries surrounding the Mediterranean have been linked to mutations in the [http://www.uniprot.org/uniprot/P29033 GJB2 gene], which encodes Cx26 .<ref name='important'>pmid 24624091</ref>. | [http://en.wikipedia.org/wiki/Connexin Connexins] are integral transmembrane [http://en.wikipedia.org/wiki/Protein proteins] that form [http://www.ncbi.nlm.nih.gov/pubmed/7522674 intercellular channels] in [http://www.ucmp.berkeley.edu/vertebrates/vertintro.html vertebrates]. Six connexins form a hexamerical assembly, known as [http://en.wikipedia.org/wiki/Connexon connexon] or hemichannel, may form an intercellular [http://www.uniprot.org/uniprot/P29033 gap junction channel] which spans the two [http://study.com/academy/lesson/plasma-membrane-of-a-cell-definition-function-structure.html plasma membranes] and allows the exchange of cytoplasmic molecules. The importance of electrical and [http://en.wikipedia.org/wiki/Cell_signaling molecular signaling] through gap junction channels is widely recognized . 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 [http://radiopaedia.org/articles/congenital-cardiovascular-anomalies cardiovascular anomalies], [http://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/basics/definition/con-20019948 peripheral neuropathy], skin disorders, cataracts, and deafness. Of notice, about half of all cases of human deafness in countries surrounding the Mediterranean have been linked to mutations in the [http://www.uniprot.org/uniprot/P29033 GJB2 gene], which encodes Cx26 .<ref name='important'>pmid 24624091</ref>. | ||
GJB2 is a gene which encodes a member of the gap junction protein family. Intercellular signaling is one of the most essential properties of multicellular organisms. [http://www.uniprot.org/uniprot/P29033 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. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. The gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness.<ref name='Structure'>pmid 19622859</ref> | GJB2 is a gene which encodes a member of the gap junction protein family. Intercellular signaling is one of the most essential properties of multicellular organisms. [http://www.uniprot.org/uniprot/P29033 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. The gap junctions were first characterized by electron microscopy as regionally specialized structures on plasma membranes of contacting adherent cells. These structures were shown to consist of cell-to-cell channels that facilitate the transfer of ions and small molecules between cells. The gap junction proteins, also known as connexins, purified from fractions of enriched gap junctions from different tissues differ. The gap junction proteins are divided into two categories, alpha and beta. Mutations in this gene are responsible for as much as 50% of pre-lingual, recessive deafness.<ref name='Structure'>pmid 19622859</ref> | ||
