Pfam box Symbol Connexin Name Connexin image biggapjunct2.png width caption An open gap junction, composed of six identical connexin proteins. Each of these six units is a single polypeptide which passes ... , which are themselves each constructed out of six connexin molecules. Gap junctions are essential ... embryonic development, and the conducted response in microvasculature. For this reason, mutations in connexin ... and connexin structure.svg thumb left 401px Connexins are four pass transmembrane proteins with both ... then combine to form a gap junction. The connexin gene family is diverse, with twenty one identified ... are most commonly named according to their molecular weights, e.g. Cx26 is the connexin protein of 26 kDa. However, this can lead to confusion when connexin genes from different species are compared ..., e.g. Gja1 corresponds to Cx43. The nomenclature of the connexin genes and proteins is currently under .... It is also in the ER that the oligomerization of connexin molecules into hemichannels begins, a process ..., W. H. year 1998 title Connexin aequorin chimerae report cytoplasmic calcium environments along trafficking ..., A., Barrio, L. C. and Evans, W. H. year 1998 title Assembly of chimeric connexin aequorin proteins ... junction assembly multiple connexin fluorophores identify complex trafficking pathways journal Cell ..., D., Takeichi, M. and Yamasaki, H. year 1991 title Regulation of connexin 43 mediated gap junctional .... This is followed by oligomerization between the ER and trans Golgi network depending on the connexin ... RS. Cell Commun Signal. 2009 Mar 12 7 4. PMID 19284610 ref Function Connexin gap junctions are found ... between progenitor cells, neurons, and glial cells. By using specific connexin KO mice, studies revealed ... conditions. Cell coupling is governed by several mechanisms, including connexin expression. ref ... dark adaptation changes connexin expression in the mouse retina journal J Neurosci Res volume 83 ... class wikitable class sortable wikitable Connexin Gene Location and Function Cx43 GJA1 Expressed ... more details
Summary This is a cartoon of an open gap junction , showing the individual connexin molecules. It was created by User je at uwo sig on 04 20, 12 November 2006 UTC . Licensing PD self date November 2006 ... more details
protein name gap junction protein, epsilon 1, 23kDa caption image width HGNCid 33251 Symbol GJE1 AltSymbols EntrezGene 100126572 OMIM RefSeq UniProt PDB ECnumber Chromosome 6 Arm q Band 24.1 LocusSupplementaryData GJE1 is a connexin . genetics stub Ion channels g4 ... more details
protein name gap junction protein, delta 4, 40.1kDa caption image width HGNCid 23296 Symbol GJD4 AltSymbols EntrezGene 219770 OMIM RefSeq NM 153368 UniProt PDB ECnumber Chromosome 10 Arm p Band 11.22 LocusSupplementaryData GJD4 is a connexin . genetics stub Ion channels g4 ... more details
protein name gap junction protein, delta 3, 31.9kDa caption image width HGNCid 19147 Symbol GJD3 AltSymbols GJC1 EntrezGene 125111 OMIM RefSeq UniProt PDB ECnumber Chromosome 17 Arm q Band 21.1 LocusSupplementaryData GJD3 is a connexin . genetics stub Ion channels g4 ... more details
protein name gap junction protein, delta 2, 36kDa caption image width HGNCid 19154 Symbol GJD2 AltSymbols GJA9 EntrezGene 57369 OMIM RefSeq UniProt PDB ECnumber Chromosome 15 Arm q Band 13.1 LocusSupplementaryData GJD2 is a connexin . genetics stub Ion channels g4 ... more details
protein name gap junction protein, gamma 2, 47kDa caption image width HGNCid 17494 Symbol GJC2 AltSymbols GJA12 EntrezGene 57165 OMIM RefSeq NM 020435 UniProt PDB ECnumber Chromosome Arm Band LocusSupplementaryData GJC2 is a connexin . Ion channels g4 genetics stub Category Integral membrane proteins ... more details
protein name gap junction protein, beta 7, 25kDa caption image width HGNCid 16690 Symbol GJB7 AltSymbols EntrezGene OMIM RefSeq UniProt PDB ECnumber Chromosome 6 Arm q Band 15 LocusSupplementaryData GJB7 is a connexin . genetics stub Ion channels g4 ... more details
protein name gap junction protein, beta 5, 31.1kDa caption image width HGNCid 4287 Symbol GJB5 AltSymbols EntrezGene 2709 OMIM RefSeq NM 005268 UniProt PDB ECnumber Chromosome 1 Arm p Band 34.3 LocusSupplementaryData GJB5 is a connexin . genetics stub Ion channels g4 ... more details
protein name gap junction protein, alpha 10, 62kDa caption image width HGNCid 16995 Symbol GJA10 AltSymbols EntrezGene 84694 OMIM RefSeq NM 032602 UniProt PDB ECnumber Chromosome Arm Band LocusSupplementaryData GJA10 is a connexin . Ion channels g4 genetics stub Category Integral membrane proteins ... more details
In biology , a connexon is an assembly of six proteins called connexin s that can be a part of a gap junction channel between the cytoplasm of two adjacent cell biology cells . The connexon is actually the hemichannel supplied by a cell on one side of the junction two connexons from opposing cells normally come together to form the complete intercellular gap junction channel. However, in some cells, the hemichannel itself is active as a conduit between the cytoplasm and the extracellular space . Image Connexon and connexin structure.svg thumb center 501px References references Further reading cite book author Andrew L Harris and Darren Locke title Connexins, A Guide publisher Springer date 2009 location New York pages 574 url http www.springer.com 978 1 934115 46 6 isbn 978 1 934115 46 6 biochem stub Epithelial tissue Category Membrane biology de Connexon es Conexona fr Connexon ... more details
Orphan date September 2010 Infobox Journal title Cell Communication & Adhesion editor Cecilia Lo, Ph.D discipline Cell Molecular Biology language English abbreviation CAC publisher Informa Healthcare Country UK Frequency 4 issues per year History First published 1993 openaccess no website http www.informapharmascience.com cac link1 link1 name link2 link2 name RSS atom JSTOR OCLC LCCN CODEN ISSN 1541 9061 eISSN 1543 9061 Cell Communication & Adhesion is an academic journal that publishes Review journal review articles on intercellular communication, intercellular junctions and families of adhesion receptors and counter receptors from diverse biological systems. It is published by Informa plc Informa Healthcare . Core Therapeutic Areas Intercelluar communication Intercellular junctions Receptor based cell recognition & signaling Cell Communication & Adhesion is owned by Informa plc ref cite web url http www.informa.com contact office locations title Informa s global locations accessdate 2006 01 01 format work informa.com ref Editor in Chief Cecilia Lo, Ph.D., is the Editor in Chief of Cell Communication & Adhesion ref cite web url http www.informahealthcare.com page EditorialAdvisoryBoard?journalCode cac title Editorial Board Members accessdate 2009 09 16 format work informhealthcare.com ref . Publication Format Cell Communicaiton & Adhesion publishes 6 issues per year in simultaneous print and online editions. Cited Articles An update on connexin genes and their nomenclature in mouse and man Sohl, G Willecke, K Idenfitication of cells expressing Cx43, Cx30, Cx26, CX32 and Cx36 in gap junctions of rat brain and spinal cord Rash, JE Yasumura, T Davidson, KGV et al. Connexin 43 interactions with ZO 1 and alpha and beta tubulin Giepmans, BNG Verlaan, I Moolenaar, WH Connexin channels, connexin mimetic peptides and ATP release Le References reflist 2 External links http www.informahealthcare.com cac Cell Communication & Adhesion homepage of Cell Communication & Adhesion C ... more details
of connexin 30.3 and connexin 31 suggests a dominant negative mechanism associated with erythrokeratodermia ... in erythrokeratodermia variabilis novel mutations in the connexin gene GJB4 Cx30.3 and genotype ... S, Gasparini P, et al. title A common frameshift mutation and other variants in GJB4 connexin 30.3 ... doi cite journal author Macari F, Landau M, Cousin P, et al. title Mutation in the gene for connexin ... author Hennemann H, Dahl E, White JB, et al. title Two gap junction genes, connexin 31.1 and 30.3 ... more details
PBB geneid 349149 Gap junction gamma 3 , also known as connexin 30.2 Cx30.2 or connexin 31.3 Cx31.3 or gap junction epsilon 1 , is a protein that in humans is encoded by the GJC3 gene . ref name entrez cite web title Entrez Gene gap junction protein url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 349149 accessdate ref GJC3 is a connexin . Function This gene encodes a gap junction protein. The encoded protein, also known as a connexin , plays a role in formation of gap junctions, which provide direct connections between neighboring cells. ref name entrez Clinical significance Mutations in this gene have been reported to be associated with nonsyndromic deafness nonsyndromic hearing loss . ref name entrez References reflist Further reading refbegin 2 cite journal author Scherer SW, Cheung J, MacDonald JR, et al. title Human chromosome 7 DNA sequence and biology. journal Science volume 300 issue 5620 pages 767 72 year 2003 pmid 12690205 doi 10.1126 science.1083423 pmc 2882961 cite journal author Hong HM, Yang JJ, Su CC, et al. title A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing loss. journal Hum. Genet. volume 127 issue 2 pages 191 9 year 2010 pmid 19876648 doi 10.1007 s00439 009 0758 y cite journal author Ramchander PV, Panda KC, Panda AK title Mutations in the connexin 29 gene are not a major cause of nonsyndromic hearing impairment in India. journal Genet Test Mol Biomarkers volume 14 issue 4 pages 539 41 year 2010 pmid 20632892 doi 10.1089 gtmb.2010.0026 cite journal author Kleopa KA, Orthmann JL, Enriquez A, et al. title Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes. journal Glia volume 47 issue 4 pages 346 57 year 2004 pmid 15293232 doi 10.1002 ... of connexin genes in children with hearing impairment genotype phenotype correlation. journal ... human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues. journal ... more details
, Jungbluth S, Dahl E, et al. title Six genes of the human connexin gene family coding for gap junctional .... title Physical mapping of the human connexin 40 GJA5 , flavin containing monooxygenase 5, and natriuretic ... related differences in connexin expression in the human heart. journal J. Mol. Cell. Cardiol. volume ... Connexin expression in Huntington s diseased human brain. journal Cell Biol. Int. volume 22 issue ... 11557558 doi cite journal author Kaba RA, Coppen SR, Dupont E, et al. title Comparison of connexin ... author Cronier L, Defamie N, Dupays L, et al. title Connexin expression and gap junctional intercellular ... more details
Connexin family of gap junction proteins. journal J. Membr. Biol. volume 116 issue 3 pages 187 ... NA, et al. title Four novel members of the connexin family of gap junction proteins. Molecular cloning ... journal author Willecke K, Jungbluth S, Dahl E, et al. title Six genes of the human connexin gene family ... year 1996 pmid 8586454 doi cite journal author Krutovskikh V, Mironov N, Yamasaki H title Human connexin ..., Li E, Paul DL title Female infertility in mice lacking connexin 37. journal Nature volume 385 issue ... L, Van Zeijl L, et al. title A genetic polymorphism in connexin 37 as a prognostic marker for atherosclerotic ... more details
PBB geneid 2706 GJB2 , is a human gene encoding for Gap junction protein, beta 2, 26kDa , or Connexin 26 . Defects in this gene lead to the most common form of congenital deafness in developed countries, called DFNB1, also known as Connexin 26 deafness or GJB2 related deafness. The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text 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. Proteins, called connexins, purified from fractions of enriched gap junctions from different tissues differ. The connexins are designated by their molecular mass. Another system of nomenclature divides gap junction proteins into 2 categories, alpha and beta, according to sequence similarities at the nucleotide and amino acid levels. For example, CX43 MIM 121014 is designated alpha 1 gap junction protein, whereas CX32 GJB1 MIM 304040 and CX26 are called beta 1 and beta 2 gap junction proteins, respectively. This nomenclature emphasizes that CX32 and CX26 are more homologous to each other than either of them is to CX43. supplied by OMIM ref cite web title Entrez Gene GJB2 gap junction protein, beta 2, 26kDa url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 2706 accessdate ref See also Connexin Gap junction Vohwinkel syndrome Bart Pumphrey syndrome References Reflist External links http www.ncbi.nlm.nih.gov bookshelf br.fcgi?book gene&part dfna3 GeneReviews NCBI NIH UW entry on Nonsyndromic Hearing Loss and Deafness ... citations Cite journal author Kenneson A, Van Naarden Braun K, Boyle C title GJB2 connexin 26 ... T, Chen X, et al. title Novel mutations in GJB2 encoding connexin 26 in Japanese patients with keratitis ... AP title Connexin 26 mutations in autosomal recessive deafness disorders a review. journal International ... more details
is a member of the connexin gene family. The encoded protein is a component of gap junctions, which ... LE, Bailey RA, et al. title Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis ... DP, Wilgoss AL, Richard G, et al. title Connexin mutations associated with palmoplantar keratoderma ... Connexin 31 GJB3 is expressed in the peripheral and auditory nerves and causes neuropathy and hearing ... of the connexin 31 protein. journal Hum. Mol. Genet. volume 11 issue 11 pages 1311 6 year 2002 pmid ... forming protein, connexin 31.9. Interaction with zona occludens protein 1. journal J. Biol. Chem ... of skin disease associated connexin 31 mutations. journal Hum. Mol. Genet. volume 11 issue 17 ..., Lalwani AK title Mutation analysis of Connexin 31 GJB3 in sporadic non syndromic hearing impairment ... sequence variants of GJB3 G12D and R32W on the function of connexin 31 in vitro. journal Exp. Dermatol ... journal author Plantard L, Huber M, Macari F, et al. title Molecular interaction of connexin 30.3 and connexin ... more details
Jay year 2003 month May. title Regulation of epidermal growth factor induced connexin 43 gap junction ... P year 2002 month May. title Connexin family members target to lipid raft domains and interact with caveolin ... 2002 month Nov. title Casein kinase 1 regulates connexin 43 gap junction assembly journal J. Biol. Chem ... quote ref See also Connexin Hypoplastic left heart syndrome References reflist Further reading refbegin ... 1 934115 46 6 isbn 978 1 934115 46 6 cite journal author Saffitz JE, Laing JG, Yamada KA title Connexin ... summary yes update citations yes pt Connexin 43 ... more details
cite journal author Willecke K, Jungbluth S, Dahl E, et al. title Six genes of the human connexin ... of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice. journal Cell volume 91 issue ... congenital zonular pulverulent cataracts linked to 13q11 CZP3 and a novel mutation in connexin 46 ... cite journal author Das Sarma J, Meyer RA, Wang F, et al. title Multimeric connexin interactions ... 2002 pmid 11739633 doi cite journal author Schubert AL, Schubert W, Spray DC, Lisanti MP title Connexin ... mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance ... author Addison PK, Berry V, Holden KR, et al. title A novel mutation in the connexin 46 gene GJA3 ... more details
and carboxy terminal regions facing the cytoplasm. Connexin genes are expressed in a cell type specific ... doi pmc 2230361 Cite journal author Kelley PM, Abe S, Askew JW, et al. title Human connexin 30 GJB6 ... al. title A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. journal N. Engl ... author Smith FJ, Morley SM, McLean WH title A novel connexin 30 mutation in Clouston syndrome ... and deafness associated connexin 30 mutations. journal Biochem. Biophys. Res. Commun. volume 298 issue ... JJ, Yang S, et al. title A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal ... and distribution of GJB2 connexin 26 and GJB6 connexin 30 mutations in a large North American repository ... more details
Urban last7 Deutsch first8 Goran last8 S hl title Structural and functional diversity of connexin ... Paul D. last1 Lampe first2 Alan F. last2 Lau title The effects of connexin phosphorylation on gap ... title Structure of the connexin 26 gap junction channel at 3.5 A resolution volume 458 issue ... hetero hexamer s of connexin protein s. Invertebrate gap junctions comprise proteins from ... are heterotypic. In turn, hemichannels of uniform connexin composition are called homomeric, while ... of organization DNA to RNA to Connexin protein. One connexin protein has four Transmembrane protein .... Properties Allows for direct electrical communication between cells, although different connexin ... triphosphate IP sub 3 sub and calcium Ca2 Ca sup 2 sup , ref name mbc although different connexin ... smaller than 1,000 Atomic mass unit Daltons to pass through, although different connexin subunits ... and multiple sclerosis . Connexin proteins expressed in neurons include mCX26 mCX43 mCX36 mCX56.6 ... of the principal protein, connexin year 1974 last1 Goodenough first1 D. A. journal The Journal ... gap junction plaques enriched in the channel forming protein connexin more systematic study and identification ... showed gap junction plaques are home to non connexin proteins as well making the modern usage ... more details
Orphan date February 2009 Image NBD TMA.png frame right NBD TMA NBD TMA 2 4 nitro compound nitro 2,1,3 azole benzoxadiazol 7 yl amine amino ethyl trimethylammonium is a small 139 Unified atomic mass unit u , positively charged 1 fluorescent dye. It was also known as EAM 1 N,N,N, Trimethyl 2 7 nitro 2,1,3 benzoxadiazol 4 yl amino ethanaminium iodide when it was briefly supplied by Macrocyclics Company as an iodide complex. NBD TMA has an excitation maximum at 458 nanometre nm and an emission maximum at 530 nm. It also has a smaller local excitation maximum around 343 nm. The molar extinction coefficient is about 13,000 cm sup 1 sup M sup 1 sup and its overall effective fluorescence is about 1 that of fluorescein . It is only mildly sensitive to halide ion collision quenching. NBD TMA was designed as a probe for monitoring kidney renal transport of organic ion cation s. As a small, positively charged fluorophore , it has also seen use as a tracer for measuring gap junction coupling in cases of cation selective connexin channels. Further reading PMID 10864014 PMID 15869481 Category Dyes ... more details
Infobox disease Name Erythrokeratodermia variabilis Image Alt Caption DiseasesDB ICD10 ICD9 ICDO OMIM 133200 MedlinePlus eMedicineSubj eMedicineTopic MeshID GeneReviewsID GeneReviewsName Erythrokeratodermia variabilis also known as Erythrokeratodermia figurata variabilis, Keratosis extremitatum progrediens, Keratosis palmoplantaris transgrediens et progrediens, ref name Fitz2 Freedberg, et al. 2003 . Fitzpatrick s Dermatology in General Medicine . 6th ed. . McGraw Hill. ISBN 0071380760. ref rp 509 Mendes da Costa syndrome, ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 oclc doi accessdate ref Mendes da Costa type erythrokeratodermia, and Progressive symmetric erythrokeratoderma is a rare autosomal dominant disorder that usually presents at birth or during the first year of life. ref name Fitz2 Freedberg, et al. 2003 . Fitzpatrick s Dermatology in General Medicine . 6th ed. . Page 497. McGraw Hill. ISBN 0071380760. ref One type is characterized by generalized, persistent, brown hyperkeratosis with accentuated skin markings, while a second type is localized, with involvement that is limited in extent and characterized by sharply demarcated, hyperkeratotic plaques. ref name Fitz2 ref name Andrews James, William Berger, Timothy Elston, Dirk 2005 . Andrews Diseases of the Skin Clinical Dermatology . 10th ed. . Saunders. ISBN 0721629210. ref rp 565 It can be associated with GJB3 ref name pmid cite journal author Richard G, Smith LE, Bailey RA, et al. title Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis journal Nat. Genet. volume 20 issue 4 pages 366 9 year 1998 month December pmid 9843209 doi 10.1038 3840 DUPLICATE DATA doi 10.1038 3840 ref and GJB4 . ref name pmid11017804 cite journal author Macari F, Landau M, Cousin P, et al. title Mutation in the gene for connexin 30.3 in a family with erythroke ... more details
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