Gap junction protein

Gap junction protein, beta 6
Identifiers
Symbols	GJB6 ; HED; DFNA3; CX30; ED2; EDH
External IDs	Template:OMIM5 Template:MGI HomoloGene: 4936
Gene ontology Molecular function Template:GNF GO Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO Biological process Template:GNF GO Template:GNF GO Template:GNF GO Template:GNF GO
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

Gap junction protein, beta 6, also known as GJB6, is a human gene.

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]

Further reading

• Stoppini M, Bellotti V, Negri A; et al. (1995). "Characterization of the two unique human anti-flavin monoclonal immunoglobulins". Eur. J. Biochem. 228 (3): 886–93. PMID 7737190.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Eggena M, Targan SR, Iwanczyk L; et al. (1996). "Phage display cloning and characterization of an immunogenetic marker (perinuclear anti-neutrophil cytoplasmic antibody) in ulcerative colitis". J. Immunol. 156 (10): 4005–11. PMID 8621942.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kibar Z, Der Kaloustian VM, Brais B; et al. (1996). "The gene responsible for Clouston hidrotic ectodermal dysplasia maps to the pericentromeric region of chromosome 13q". Hum. Mol. Genet. 5 (4): 543–7. PMID 8845850.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Radhakrishna U, Blouin JL, Mehenni H; et al. (1997). "The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region". Am. J. Med. Genet. 71 (1): 80–6. PMID 9215774.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Clausen BE, Bridges SL, Lavelle JC; et al. (1998). "Clonally-related immunoglobulin VH domains and nonrandom use of DH gene segments in rheumatoid arthritis synovium". Mol. Med. 4 (4): 240–57. PMID 9606177.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Grifa A, Wagner CA, D'Ambrosio L; et al. (1999). "Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus". Nat. Genet. 23 (1): 16–8. doi:10.1038/12612. PMID 10471490.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kelley PM, Abe S, Askew JW; et al. (2000). "Human connexin 30 (GJB6), a candidate gene for nonsyndromic hearing loss: molecular cloning, tissue-specific expression, and assignment to chromosome 13q12". Genomics. 62 (2): 172–6. doi:10.1006/geno.1999.6002. PMID 10610709.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Dias Neto E, Correa RG, Verjovski-Almeida S; et al. (2000). "Shotgun sequencing of the human transcriptome with ORF expressed sequence tags". Proc. Natl. Acad. Sci. U.S.A. 97 (7): 3491–6. PMID 10737800.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Lamartine J, Munhoz Essenfelder G, Kibar Z; et al. (2000). "Mutations in GJB6 cause hidrotic ectodermal dysplasia". Nat. Genet. 26 (2): 142–4. doi:10.1038/79851. PMID 11017065.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Rash JE, Yasumura T, Dudek FE, Nagy JI (2001). "Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons". J. Neurosci. 21 (6): 1983–2000. PMID 11245683.CS1 maint: Multiple names: authors list (link)
• Lerer I, Sagi M, Ben-Neriah Z; et al. (2002). "A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews". Hum. Mutat. 18 (5): 460. doi:10.1002/humu.1222. PMID 11668644.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• del Castillo I, Villamar M, Moreno-Pelayo MA; et al. (2002). "A deletion involving the connexin 30 gene in nonsyndromic hearing impairment". N. Engl. J. Med. 346 (4): 243–9. doi:10.1056/NEJMoa012052. PMID 11807148.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Smith FJ, Morley SM, McLean WH (2002). "A novel connexin 30 mutation in Clouston syndrome". J. Invest. Dermatol. 118 (3): 530–2. doi:10.1046/j.0022-202x.2001.01689.x. PMID 11874494.CS1 maint: Multiple names: authors list (link)
• Pallares-Ruiz N, Blanchet P, Mondain M; et al. (2002). "A large deletion including most of GJB6 in recessive non syndromic deafness: a digenic effect?". Eur. J. Hum. Genet. 10 (1): 72–6. doi:10.1038/sj.ejhg.5200762. PMID 11896458.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Common JE, Becker D, Di WL; et al. (2003). "Functional studies of human skin disease- and deafness-associated connexin 30 mutations". Biochem. Biophys. Res. Commun. 298 (5): 651–6. PMID 12419304.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Beltramello M, Bicego M, Piazza V; et al. (2003). "Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells". Biochem. Biophys. Res. Commun. 305 (4): 1024–33. PMID 12767933.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Zhang XJ, Chen JJ, Yang S; et al. (2004). "A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia". J. Dermatol. Sci. 32 (1): 11–7. PMID 12788524.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Pandya A, Arnos KS, Xia XJ; et al. (2004). "Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands". Genet. Med. 5 (4): 295–303. doi:10.1097/01.GIM.0000078026.01140.68. PMID 12865758.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Günther B, Steiner A, Nekahm-Heis D; et al. (2004). "The 342-kb deletion in GJB6 is not present in patients with non-syndromic hearing loss from Austria". Hum. Mutat. 22 (2): 180. doi:10.1002/humu.9167. PMID 12872268.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)