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GJB2
| Symbol: | GJB2 | | Name(s): | gap junction protein, beta 2, 26kDa | | Type: | protein-coding | | Organism: | Homo sapiens | | Synonyms: | CX26, DFNA3, DFNB1, HID, KID, NSRD1, PPK | | Links: |
Pubmed,
Entrez Gene,
GeneCards,
BioGPS,
Map Viewer.
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Gene Information from Publications |
| Publication Link |
Summary of findings |
| 18089569 |
review of autosomal dominant mutations of the genes encoding Cx26 and Cx43 [review] |
| 17993581 |
report on a family with a novel GJB2 mutation (p.His73Arg) causing a syndrome of focal palmoplantar keratoderma with severe progressive sensorineural hearing impairment |
| 18261328 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18274916 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18294049 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18300439 |
Observational study of genotype prevalence. (HuGE Navigator) |
| 18316665 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18324688 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18338563 |
Observational study of gene-disease association. (HuGE Navigator) |
| 18353197 |
Observational study of gene-disease association. (HuGE Navigator) | →View more information from publications. |
Recent Publications on GJB2: |  |
Pediatric cholesteatoma and variants in the gene encoding connexin 26.
OBJECTIVES/HYPOTHESIS:: Connexin 26 is a gap junction protein encoded by... | 31st October, 2009
| Department of Otolaryngology , The Hospital for Sick Children, Toronto,
| Laryngoscope. 2009 Oct 29.
DOI Direct Link |
Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.
OBJECTIVES/HYPOTHESIS:: To describe the audiological profiles in a... | 31st October, 2009
| Department of Otolaryngology, Tokyo Medical and Dental University Graduate
| Laryngoscope. 2009 Oct 29.
DOI Direct Link |
Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China.
BACKGROUND: Every year, 30,000 babies are born with congenital hearing... | 23rd October, 2009
| Department of Otolaryngology, PLA General Hospital, Beijing, PR China.
| J Transl Med. 2009 Sep 10;7:79.
DOI Direct Link |
The A1555G mitochondrial DNA mutation in Greek patients with non-syndromic, sensorineural hearing loss.
Mitochondrial DNA mutations are undoubtedly a factor that contributes to... | 20th October, 2009
| Department of Genetics, Institute of Child Health, 'Aghia Sophia'
| Biochem Biophys Res Commun. 2009 Oct 14.
DOI Direct Link |
The digenic hypothesis unraveled: the GJB6 del(GJB6-D13S1830) mutation causes allele-specific loss of GJB2 expression in cis.
Connexin 26 and connexin 30 are the major connexins expressed in the... | 15th October, 2009
| Department of Pathology, Stanford University School of Medicine, Stanford,
| Biochem Biophys Res Commun. 2009 Nov 13;389(2):354-9. Epub 2009 Aug 31.
DOI Direct Link |
→View more research publications. |
GJB2 results (if any) from reagent suppliers | 
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connexin 26 (O-24) Antibody sc-130729
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, GJB2, 2706, 13q12.11, P29033 ...
http://www.scbt.com/datasheet-130729-connexin-26-o-24-antibo...
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C6344 Monoclonal Anti-Connexin-32 antibody produced in mouse clone ...
GJB1(2705), GJB2(2706). rat ... Gja1(24392), Gjb1(29584). mouse ... Gjb1(14618). shipped in, dry ice. storage temp. −20°C ...
http://www.sigmaaldrich.com/catalog/ProductDetail.do?D7=0&N5...
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connexin 26/30/32 (FL-226) Antibody sc-28659
Human, GJB2, 2706, 13q12.11, NM_004004 · P29033 · 121011. Human, GJB6, 10804, 13q12.11, NM_006783 · O95452 · 604418. Mouse, Gjb2, 14619, 14 C3, Q00977 ...
http://www.scbt.com/datasheet-28659-connexin-26-30-32-fl-226...
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TCOF1 antibody, Treacle protein Antibody, Chicken IgY Polyclonal ...
GJB2 (gap junction protein. beta 2. 26kD... GLI2 (GLI-Kruppel family member GLI2 ), GM-CSF, GM-CSF Human, GM-CSF Human, Sf9, GM-CSF Mouse, GM-CSF Porcine ...
http://www.genwaybio.com/product_info.php?products_id=672...
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connexin 26 siRNA (h) sc-37050
Species, Gene Name, Gene ID, Chromosome Location, Isoform (mRNA) Accession #, Protein Accession #, OMIM™ Number. Human, GJB2, 2706, 13q12.11, NM_004004 ...
http://www.scbt.com/datasheet-37050-connexin-26-sirna-h.html...
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The goal of cell regulation is to deliver the proper quantity of ...
GJB2. AP6169a. MAGEA8. AP6205a. MMP24. AP6000a. SARS virus Sn. AP8171a. BAI2. AP1543b. GJB3. AP6170a. MAGEA9. AP6215a. MSF. AP6263a. SCDGFB. AP8172a. BAI3 ...
http://www.abgent.com/downloads/Cellular_Function_Diseases.p...
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Abcam antibodies and reagents product map
... GJA10 antibodies (2) · GJA3 antibodies (1) · GJA8 antibodies (1) · GJB2 antibodies (4) · GJB3 antibodies (2) · GJB5 antibodies (1) · GJB6 antibodies (1)
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http://www.abcam.com/index.html?c=2105...
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