Part of a group of major proteins of gap junctions that are important in the key process of intercellular communication in most cell types. The connexins are encoded by a large gene family, of which 15 human genes have been identified (as of this writing in 2001). Dominant mutations in the connexin molecules underlie some skin diseases or deafness or both disorders. Connexin mutations also underlie other disorders, including peripheral neuropathy and cataract formation. Connexin mutations are, for instance responsible for some of the inherited keratodermas. These are hereditary skin disorders characterized by thickened (hyperkeratotic) skin on the palms and soles. Mutations in four connexins have been demonstrated in epidermal disorders. In three of these connexins, certain mutations also result in sensorineural hearing loss (deafness).

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con·nex·in (kə-nekґsin) one of the protein subunits of a connexon, six connexins in hexagonal array making up a connexon. Each connexin contains four transmembrane α-helices and numerous connexin subtypes exist.

Medical dictionary. 2011.

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  • Connexin — An open gap junction, composed of six identical connexin proteins. Each of these six units is a single polypeptide which passes the membrane four times (referred to as four pass transmembrane proteins). Identifiers Symbol …   Wikipedia

  • Connexin — Schemazeichnung …   Deutsch Wikipedia

  • Connexin 43 — protein Name = gap junction protein, alpha 1, 43kDa (connexin 43) caption = width = HGNCid = 4274 Symbol = GJA1 AltSymbols = ODDD, GJAL EntrezGene = 2697 OMIM = 121014 RefSeq = NM 000165 UniProt = P17302 PDB = ECnumber = Chromosome = 6 Arm = q… …   Wikipedia

  • connexin 26 — The gap junction protein, the gene for which (Cx26) when mutated, accounts for a major portion of recessive nonsyndromic hearing impairment. * * * a connexin subtype encoded on chromosome 13q11 12; autosomal recessive mutation of the gene… …   Medical dictionary

  • connexin — Generic term for proteins isolated from gap junctions. It has been proposed that connexins are the major structural proteins of the connexon. However, this is still a matter of debate and connexins vary from tissue to tissue …   Dictionary of molecular biology

  • connexin — noun Any of a class of transmembrane proteins that form assembled structures in vertebrates …   Wiktionary

  • Connexin-32 internal ribosome entry site (IRES) — Predicted secondary structure and sequence conservation of IRES Cx32 Identifiers Symbol IRES Cx32 Rfam …   Wikipedia

  • Connexin-43 internal ribosome entry site (IRES) — Predicted secondary structure and sequence conservation of IRES Cx43 Identifiers Symbol IRES Cx43 Rfam …   Wikipedia

  • Connexon — Connexin 26 Hexamer von der Seite und vorn. Connexon Schema …   Deutsch Wikipedia

  • GJB3 — Gap junction protein, beta 3, 31kDa, also known as GJB3, is a human gene.cite web | title = Entrez Gene: GJB3 gap junction protein, beta 3, 31kDa| url = Cmd=ShowDetailView TermToSearch=2707|… …   Wikipedia

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