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 ... George, C. H., Kendall, J. M., Campbell, A. K. and Evans, W. H. year 1998 title Connexin aequorin chimerae ... title Assembly of chimeric connexin aequorin proteins into functional gap junction channels. Reporting ...., Errington, R. J. and Evans, W. H. year 2001 title Gap junction assembly multiple connexin fluorophores ... 1991 title Regulation of connexin 43 mediated gap junctional intercellular communication by Ca2 in mouse ... between the ER and trans Golgi network depending on the connexin type into connexons, which are then delivered ... 10.1186 1478 811X 7 4 PMID 19284610 ref Function Connexin gap junctions are found only in vertebrate ... cells, neurons, and glial cells. By using specific connexin KO mice, studies revealed that cell coupling ... coupling is governed by several mechanisms, including connexin expression. ref name Kihara cite ... changes connexin expression in the mouse retina journal J Neurosci Res volume 83 issue 7 pages 1331 ... class sortable wikitable Connexin Gene Location and Function Cx43 GJA1 Expressed at the surface of vasculature ... more details
PBB geneid 219770 Gap junction delta 4 protein GJD4 , also known as connexin 40.1 Cx40.1 , is a protein that in humans is encoded by the GJD4 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 219770 accessdate ref Function Connexin s, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits. ref name entrez ref name pmid12881038 cite journal author S hl G, Nielsen PA, Eiberger J, Willecke K title Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues journal Cell Commun. Adhes. volume 10 issue 1 pages 27 36 year 2003 pmid 12881038 doi url ref References reflist NLM content Ion channels g4 Gene 10 stub ... more details
PBB geneid 375519 Gap junction beta 7 protein GJB7 , also known as connexin 25 Cx25 , is a protein that in humans is encoded by the GJB7 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 375519 accessdate ref Function Connexin s, such as GJB7, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits. ref name entrez ref name pmid12881038 cite journal author S hl G, Nielsen PA, Eiberger J, Willecke K title Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues journal Cell Commun. Adhes. volume 10 issue 1 pages 27 36 year 2003 pmid 12881038 doi url ref References reflist NLM content Ion channels g4 Genetics stub ... more details
Infobox Anatomy Name Connexon Latin connexona GraySubject GrayPage Image Connexon and connexin structure.svg Caption Connexon and connexin structure Image2 Caption2 Precursor System Artery Vein Nerve Lymph MeshName MeshNumber Code TerminologiaHistologica 1 00 01.1.02025 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 . References references Further reading cite book author Andrew L Harris and Darren Locke title Connexins, A Guide publisher Springer year 2009 location New York pages 574 url http www.springer.com 978 1 934115 46 6 isbn 978 1 934115 46 6 Epithelial tissue Category Membrane biology biochem stub de Connexon es Conexona fr Connexon it Connessone pl Konekson ru ... more details
PBB geneid 84694 Gap junction alpha 10 protein , also known as connexin 62 Cx62 , is a protein that in humans is encoded by the GJA10 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 84694 accessdate ref Connexin s, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits. ref name entrez ref name pmid12881038 cite journal author S hl G, Nielsen PA, Eiberger J, Willecke K title Expression profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative mouse orthologues journal Cell Commun. Adhes. volume 10 issue 1 pages 27 36 year 2003 pmid 12881038 doi url ref References reflist Further reading refbegin cite journal author Hosgood HD, Zhang L, Shen M, et al. title Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity. journal Occup Environ Med volume 66 issue 12 pages 848 53 year 2009 pmid 19773279 doi 10.1136 oem.2008.044024 pmc 2928224 refend NLM content Ion channels g4 Category Integral membrane proteins Gene 6 stub ... 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
PBB geneid 125111 Gap junction delta 2 GJD2 , also known as connexin 36 Cx36 or gap junction alpha 9 GJA9 , is a protein that in humans is encoded by the GJD2 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 125111 accessdate ref Function This gene is a member of the large family of connexin s that are required for the formation of gap junction s. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. ref name entrez References reflist Further reading refbegin 2 cite journal author White TW, Srinivas M, Ripps H, et al. title Virtual cloning, functional expression, and gating analysis of human connexin31.9. journal Am. J. Physiol., Cell Physiol. volume 283 issue 3 pages C960 70 year 2002 pmid 12176752 doi 10.1152 ajpcell.00163.2002 cite journal author Gemel J, Lin X, Collins R, et al. title Cx30.2 can form heteromeric gap junction channels with other cardiac connexins. journal Biochem. Biophys. Res. Commun. volume 369 issue 2 pages 388 94 year 2008 pmid 18291099 doi 10.1016 j.bbrc.2008.02.040 cite journal author Belluardo N, White TW, Srinivas M, et al. title Identification and functional expression of HCx31.9, a novel gap junction gene. journal Cell Commun. Adhes. volume 8 issue 4 6 pages 173 8 year 2001 pmid 12064584 doi cite journal author Bukauskas FF, Kreuzberg MM, Rackauskas M, et al. title Properties of mouse connexin 30.2 and human connexin 31.9 hemichannels implications for atrioventricular conduction in the heart ... profiles of the novel human connexin genes hCx30.2, hCx40.1, and hCx62 differ from their putative ... Tissue specific effects of wild type and mutant connexin 31 a role in neurite outgrowth. journal ..., and tissue distribution of a novel human gap junction forming protein, connexin 31.9. Interaction ... 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 GJE1 , 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 ... screening 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 ... more details
PBB geneid 2709 Gap junction beta 5 protein GJB5 , also known as connexin 31.1 Cx31.1 , is a protein that in humans is encoded by the GJB5 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 2709 accessdate ref Function Gap junction s are conduits that allow the direct cell to cell passage of small cytoplasmic molecules, including ions, metabolic intermediates, and second messengers, and thereby mediate intercellular metabolic and electrical communication. Gap junction channels consist of connexin protein subunits, which are encoded by a multigene family. ref name entrez References reflist Further reading refbegin 2 cite journal author Canova C, Hashibe M, Simonato L, et al. title Genetic associations of 115 polymorphisms with cancers of the upper aerodigestive tract across 10 European countries the ARCAGE project. journal Cancer Res. volume 69 issue 7 pages 2956 65 year 2009 pmid 19339270 doi 10.1158 0008 5472.CAN 08 2604 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 pmid 9843209 doi 10.1038 3840 refend gene 1 stub NLM content Ion channels g4 ... more details
connexin gene GJB3 cause erythrokeratodermia variabilis journal Nat. Genet. volume 20 issue 4 pages ... j.1523 1747.1999.00792.x cite journal author Kelsell DP, Wilgoss AL, Richard G, et al. title Connexin ... Bigas N, Oliv M, Rabionet R, et al. title Connexin 31 GJB3 is expressed in the peripheral and auditory ... EKV and leads to defective trafficking of the connexin 31 protein journal Hum. Mol. Genet. volume ... distribution of a novel human gap junction forming protein, connexin 31.9. Interaction with zona ... trafficking and cell death is characteristic of skin disease associated connexin 31 mutations journal ... cite journal author Mhatre AN, Weld E, Lalwani AK title Mutation analysis of Connexin 31 GJB3 in sporadic ... al. title Divergent effects of two sequence variants of GJB3 G12D and R32W on the function of connexin ... interaction of connexin 30.3 and connexin 31 suggests a dominant negative mechanism associated ... more details
May. title Regulation of epidermal growth factor induced connexin 43 gap junction communication by big .... title Connexin family members target to lipid raft domains and interact with caveolin 1 journal Biochemistry ... kinase 1 regulates connexin 43 gap junction assembly journal J. Biol. Chem. volume 277 issue 47 pages ... Connexin Hypoplastic left heart syndrome References reflist Further reading refbegin 2 cite book ... author Saffitz JE, Laing JG, Yamada KA title Connexin expression and turnover implications for cardiac ... PDB Gallery geneid 2697 Ion channels g4 gene 6 stub pt Connexin 43 ... more details
interaction of connexin 30.3 and connexin 31 suggests a dominant negative mechanism associated ... Genetic heterogeneity in erythrokeratodermia variabilis novel mutations in the connexin gene GJB4 ... connexin 30.3 Analysis of hearing impairment families. journal Hum. Mutat. volume 19 issue 4 pages ... for connexin 30.3 in a family with erythrokeratodermia variabilis. journal Am. J. Hum. Genet ... cite journal author Hennemann H, Dahl E, White JB, et al. title Two gap junction genes, connexin ... more details
PBB geneid 2706 Gap junction beta 2 GJB2 also known as connexin 26 Cx26 is a protein that in humans is encoded by the GJB2 gene . 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. Function 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 this protein 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 Gap junction protein, alpha 1 CX43 . 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 Further reading Refbegin 2 Cite journal author Kenneson A, Van Naarden Braun K, Boyle C title GJB2 connexin 26 variants and nonsyndromic sensorineural hearing loss a HuGE review. journal Genet. Med. volume 4 issue 4 pages 258 74 year 2002 pmid 12172392 doi 10.1097 00125817 200207000 00004 Cite journal author Thalmann R, Henzl MT, Killick ... Novel mutations in GJB2 encoding connexin 26 in Japanese patients with keratitis ichthyosis deafness ... j.1365 2133.2003.05245.x Cite journal author Apps SA, Rankin WA, Kurmis AP title Connexin 26 mutations ... more details
connexin gene GJB3 cause erythrokeratodermia variabilis journal Nat. Genet. volume 20 issue ..., et al. title Mutation in the Gene for Connexin 30.3 in a Family with Erythrokeratodermia Variabilis ... more details
E, et al. title Six genes of the human connexin gene family coding for gap junctional proteins ... Krutovskikh V, Mironov N, Yamasaki H title Human connexin 37 is polymorphic but not mutated in tumours ... lacking connexin 37 journal Nature volume 385 issue 6616 pages 525 9 year 1997 pmid 9020357 doi ... polymorphism in connexin 37 as a prognostic marker for atherosclerotic plaque development journal J ... more details
the connexin code? volume 11 issue 1 pages 2 6 journal Trends in cell biology doi 10.1016 S0962 ... and functional diversity of connexin genes in the mouse and human genome volume 383 issue 5 pages ... of connexin phosphorylation on gap junctional communication volume 36 issue 7 pages 1171 86 ... of the connexin 26 gap junction channel at 3.5 A resolution volume 458 issue 7238 pages 597 602 ... hetero hexamer s of connexin protein s. Invertebrate gap junctions comprise proteins from the hypothetical ... 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 subunits ... triphosphate IP sub 3 sub and calcium Ca2 Ca sup 2 sup , ref name mbc although different connexin ... smaller than 1,111 Atomic mass unit Daltons to pass through, although different connexin subunits ... degeneration similar to that observed in Pelizaeus Merzbacher disease and multiple sclerosis . Connexin ... GAP JUNCTIONS Characterization of the Principal Protein, Connexin year 1974 last1 Goodenough first1 ... ref of the intercellular gap junction plaques enriched in the channel forming protein connexin more ... last3 Bullivant ref However later studies showed gap junction plaques are home to non connexin proteins ... 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
. Connexin genes are expressed in a cell type specific manner with overlapping specificity. The gap ... Kelley PM, Abe S, Askew JW, et al. title Human connexin 30 GJB6 , a candidate gene for nonsyndromic ... journal author del Castillo I, Villamar M, Moreno Pelayo MA, et al. title A deletion involving the connexin ... WH title A novel connexin 30 mutation in Clouston syndrome. journal J. Invest. Dermatol. volume ... D, Di WL, et al. title Functional studies of human skin disease and deafness associated connexin 30 ... in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. journal J. Dermatol ... journal author Pandya A, Arnos KS, Xia XJ, et al. title Frequency and distribution of GJB2 connexin 26 and GJB6 connexin 30 mutations in a large North American repository of deaf probands. journal ... more details
Infobox Disease Name Keratitis ichthyosis deafness syndrome Image Caption DiseasesDB 32841 DiseasesDB mult DiseasesDB2 32842 ICD10 ICD10 Group Major minor LinkGroup LinkMajor ICD9 ICD9 xxx ICDO OMIM 148210 OMIM mult OMIM2 242150 MedlinePlus eMedicineSubj eMedicineTopic MeshID Keratitis ichthyosis deafness syndrome also known as Erythrokeratodermia progressiva Burns, 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 770 isbn 1 4160 2999 0 oclc doi accessdate ref Ichthyosiform erythroderma, corneal involvement, and deafness, and KID syndrome, presents at birth infancy and is characterized by pregressive corneal opacification, either mild generalized hyperkeratosis or discrete erythematous plaques, and neurosensory deafness. ref name Fitz2 Freedberg, et al. 2003 . Fitzpatrick s Dermatology in General Medicine . 6th ed. . McGraw Hill. ISBN 0071380760. ref rp 483,513 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 is caused by a mutation in GJB2 connexin 26 . Citation needed date January 2010 See also Senter syndrome Ichthyosis hystrix List of cutaneous conditions References reflist Genodermatoses stub Channelopathy Category Palmoplantar keratodermas Category Genodermatoses ... more details
year 1992 pmid 1310450 doi cite journal author Willecke K title Six genes of the human connexin gene ... Bernard A. cite journal author Gelb BD title Physical mapping of the human connexin 40 GJA5 , flavin ... 10.1006 cyto.1997.0287 cite journal author Vozzi C title Chamber related differences in connexin ... cite journal author Vis JC title Connexin expression in Huntington s diseased human brain journal Cell ... Comparison of connexin 43, 40 and 45 expression patterns in the developing human and mouse hearts journal ... H. last9 Rothery first9 Stephen cite journal author Cronier L title Connexin expression and gap junctional ... more details
10.1007 BF01232976 cite journal author Willecke K title Six genes of the human connexin gene family ... author Gong X title Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis ... and a novel mutation in connexin 46 GJA3 journal Hum. Genet. volume 106 issue 2 pages 206 9 year ... J. cite journal author Das Sarma J title Multimeric connexin interactions prior to the trans Golgi ... Connexin family members target to lipid raft domains and interact with caveolin 1 journal Biochemistry ... Burdon KP title A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract ... author Addison PK title A novel mutation in the connexin 46 gene GJA3 causes autosomal dominant zonular ... more details
PBB geneid 57165 Gap junction gamma 2 GJC2 , also known as connexin 46.6 Cx46.6 and connexin 47 Cx47 and gap junction alpha 12 GJA12 , is a protein that in humans is encoded by the GJC2 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 57165 accessdate ref Function This gene encodes a gap junction protein. Gap junction proteins are members of a large family of homologous connexin s and comprise 4 transmembrane, 2 extracellular, and 3 cytoplasmic domains. This gene plays a key role in central myelination and is involved in peripheral myelination in humans. ref name entrez Clinical significance Defects in this gene are the cause of autosomal recessive Pelizaeus Merzbacher disease Pelizaeus Merzbacher like disease 1. ref name entrez References reflist Further reading refbegin 2 cite journal author Ostergaard P, Simpson MA, Brice G, et al. title Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype. journal J. Med. Genet. volume 48 issue 4 pages 251 5 year 2011 pmid 21266381 doi 10.1136 jmg.2010.085563 cite journal author Odermatt B, Wellershaus K, Wallraff A, et al. title Connexin 47 Cx47 deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS. journal J. Neurosci. volume 23 issue 11 pages 4549 59 year 2003 pmid 12805295 doi cite journal author Menichella DM, Goodenough DA, Sirkowski E, et al. title Connexins are critical for normal myelination in the CNS. journal J. Neurosci. volume 23 issue 13 pages 5963 73 year 2003 pmid 12843301 doi cite journal author Salviati L, Trevisson E, Baldoin MC, et al. title A novel deletion in the GJA12 gene causes Pelizaeus Merzbacher ... F, et al. title Mutations in the gene encoding gap junction protein alpha 12 connexin 46.6 cause ... more details
Infobox Disease Name Retrognathism Image Caption DiseasesDB 34031 ICD10 ICD10 K 07 1 k 00 ICD9 ICD9 524.10 ICDO OMIM MedlinePlus eMedicineSubj eMedicineTopic MeshID D012182 Retrognathia or retrognathism is a type of malocclusion which refers to an abnormal posterior positioning of the maxilla ref name pmid16477335 cite journal author Chang JZ, Liu PH, Chen YJ, et al. title Thin plate spline analysis of the effects of face mask treatment in children with maxillary retrognathism journal J. Formos. Med. Assoc. volume 105 issue 2 pages 147 54 year 2006 month February pmid 16477335 doi 10.1016 S0929 6646 09 60336 3 url http ajws.elsevier.com ajws pubmed pubmed switch.asp?journal issn 0929 6646&art pub year 2006&art pub month 02&art pub vol 105&art sp 147 ref or Human mandible mandible , ref name pmid17509830 cite journal author van Es RJ, Wittebol Post D, Beemer FA title Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly a case report with a novel mutation in the connexin 43 gene journal Int J Oral Maxillofac Surg volume 36 issue 9 pages 858 60 year 2007 month September pmid 17509830 doi 10.1016 j.ijom.2007.03.004 url http linkinghub.elsevier.com retrieve pii S0901 5027 07 00117 8 ref particularly the mandible, relative to the facial skeleton and soft tissues. ref DorlandsDict seven 000092657 Retrognathism ref A retrognathic mandible is commonly, though incorrectly, referred to as an overbite . See also Micrognathism References reflist External links http brooksideorthodontics.com treatments class2 3.html Diagram at brooksideorthodontics.com Dentofacial anomalies and jaw disease Category Jaw disorders disease stub fr R trognathisme pt Retrognatismo ... more details
RL, Steele EC, et al. title Regional mapping of the human MP70 Cx50 connexin 50 gene by fluorescence ... role of the carboxyl terminal domain of human connexin 50 in gap junctional channels. journal ... X, Valente J, Azevedo MH, et al. title Connexin 50 gene on human chromosome 1q21 is associated with schizophrenia ... more details
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