Gap junction protein

Gap junction protein

Gap junction protein, beta 6, also known as GJB6, is a human gene.cite web | title = Entrez Gene: GJB6 gap junction protein, beta 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10804| accessdate = ]

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summary_text = The connexin gene family codes for the protein subunits of gap junction channels that mediate direct diffusion of ions and metabolites between the cytoplasm of adjacent cells. Connexins span the plasma membrane 4 times, with amino- and carboxy-terminal regions facing the cytoplasm. Connexin genes are expressed in a cell type-specific manner with overlapping specificity. The gap junction channels have unique properties depending on the type of connexins constituting the channel. [supplied by OMIM] cite web | title = Entrez Gene: GJB6 gap junction protein, beta 6| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10804| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Stoppini M, Bellotti V, Negri A, "et al." |title=Characterization of the two unique human anti-flavin monoclonal immunoglobulins. |journal=Eur. J. Biochem. |volume=228 |issue= 3 |pages= 886–93 |year= 1995 |pmid= 7737190 |doi=
*cite journal | author=Eggena M, Targan SR, Iwanczyk L, "et al." |title=Phage display cloning and characterization of an immunogenetic marker (perinuclear anti-neutrophil cytoplasmic antibody) in ulcerative colitis. |journal=J. Immunol. |volume=156 |issue= 10 |pages= 4005–11 |year= 1996 |pmid= 8621942 |doi=
*cite journal | author=Kibar Z, Der Kaloustian VM, Brais B, "et al." |title=The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q. |journal=Hum. Mol. Genet. |volume=5 |issue= 4 |pages= 543–7 |year= 1996 |pmid= 8845850 |doi=
*cite journal | author=Radhakrishna U, Blouin JL, Mehenni H, "et al." |title=The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region. |journal=Am. J. Med. Genet. |volume=71 |issue= 1 |pages= 80–6 |year= 1997 |pmid= 9215774 |doi=
*cite journal | author=Clausen BE, Bridges SL, Lavelle JC, "et al." |title=Clonally-related immunoglobulin VH domains and nonrandom use of DH gene segments in rheumatoid arthritis synovium. |journal=Mol. Med. |volume=4 |issue= 4 |pages= 240–57 |year= 1998 |pmid= 9606177 |doi=
*cite journal | author=Grifa A, Wagner CA, D'Ambrosio L, "et al." |title=Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus. |journal=Nat. Genet. |volume=23 |issue= 1 |pages= 16–8 |year= 1999 |pmid= 10471490 |doi= 10.1038/12612
*cite journal | author=Kelley PM, Abe S, Askew JW, "et al." |title=Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12. |journal=Genomics |volume=62 |issue= 2 |pages= 172–6 |year= 2000 |pmid= 10610709 |doi= 10.1006/geno.1999.6002
*cite journal | author=Dias Neto E, Correa RG, Verjovski-Almeida S, "et al." |title=Shotgun sequencing of the human transcriptome with ORF expressed sequence tags. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=97 |issue= 7 |pages= 3491–6 |year= 2000 |pmid= 10737800 |doi=
*cite journal | author=Lamartine J, Munhoz Essenfelder G, Kibar Z, "et al." |title=Mutations in GJB6 cause hidrotic ectodermal dysplasia. |journal=Nat. Genet. |volume=26 |issue= 2 |pages= 142–4 |year= 2000 |pmid= 11017065 |doi= 10.1038/79851
*cite journal | author=Rash JE, Yasumura T, Dudek FE, Nagy JI |title=Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons. |journal=J. Neurosci. |volume=21 |issue= 6 |pages= 1983–2000 |year= 2001 |pmid= 11245683 |doi=
*cite journal | author=Lerer I, Sagi M, Ben-Neriah Z, "et al." |title=A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews. |journal=Hum. Mutat. |volume=18 |issue= 5 |pages= 460 |year= 2002 |pmid= 11668644 |doi= 10.1002/humu.1222
*cite journal | author=del Castillo I, Villamar M, Moreno-Pelayo MA, "et al." |title=A deletion involving the connexin 30 gene in nonsyndromic hearing impairment. |journal=N. Engl. J. Med. |volume=346 |issue= 4 |pages= 243–9 |year= 2002 |pmid= 11807148 |doi= 10.1056/NEJMoa012052
*cite journal | author=Smith FJ, Morley SM, McLean WH |title=A novel connexin 30 mutation in Clouston syndrome. |journal=J. Invest. Dermatol. |volume=118 |issue= 3 |pages= 530–2 |year= 2002 |pmid= 11874494 |doi= 10.1046/j.0022-202x.2001.01689.x
*cite journal | author=Pallares-Ruiz N, Blanchet P, Mondain M, "et al." |title=A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect? |journal=Eur. J. Hum. Genet. |volume=10 |issue= 1 |pages= 72–6 |year= 2002 |pmid= 11896458 |doi= 10.1038/sj.ejhg.5200762
*cite journal | author=Common JE, Becker D, Di WL, "et al." |title=Functional studies of human skin disease- and deafness-associated connexin 30 mutations. |journal=Biochem. Biophys. Res. Commun. |volume=298 |issue= 5 |pages= 651–6 |year= 2003 |pmid= 12419304 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Beltramello M, Bicego M, Piazza V, "et al." |title=Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells. |journal=Biochem. Biophys. Res. Commun. |volume=305 |issue= 4 |pages= 1024–33 |year= 2003 |pmid= 12767933 |doi=
*cite journal | author=Zhang XJ, Chen JJ, Yang S, "et al." |title=A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia. |journal=J. Dermatol. Sci. |volume=32 |issue= 1 |pages= 11–7 |year= 2004 |pmid= 12788524 |doi=
*cite 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=Genet. Med. |volume=5 |issue= 4 |pages= 295–303 |year= 2004 |pmid= 12865758 |doi= 10.1097/01.GIM.0000078026.01140.68
*cite journal | author=Günther B, Steiner A, Nekahm-Heis D, "et al." |title=The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria. |journal=Hum. Mutat. |volume=22 |issue= 2 |pages= 180 |year= 2004 |pmid= 12872268 |doi= 10.1002/humu.9167

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