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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

GJB5  -  gap junction protein, beta 5, 31.1kDa

Homo sapiens

Synonyms: CX31.1, Connexin-31.1, Cx31.1, Gap junction beta-5 protein
 
 
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Disease relevance of GJB5

 

High impact information on GJB5

  • GJB3, GJB5 and GJA4 were localized to a 1.1-Mb YAC in the candidate interval [2].
  • More specifically, our study provides the first evidence that claudin-7 and connexin 31.1 are down-regulated in head and neck squamous cell carcinomas (HNSCC) compared to normal cells [3].
  • Cx26 staining was limited to the lower suprabasal cells, whereas Cx31.1 localized to the apical surface of basal cells in the central cornea and to the lower and middle suprabasal cells in the limbal region [4].
  • We performed mutation screenings in GJB5 and the TGF-beta-receptor-II poly(10)adenine hot spot employing larynx cancer samples of 10 patients [1].

References

  1. Reduced expression of connexin 31.1 in larynx cancer is not caused by GJB5 mutations. Broghammer, M., Leistenschneider, P., Baus-Loncar, M., Blin, N., Sasiadek, M.M., Pusch, C.M. Cancer Lett. (2004) [Pubmed]
  2. Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Richard, G., Smith, L.E., Bailey, R.A., Itin, P., Hohl, D., Epstein, E.H., DiGiovanna, J.J., Compton, J.G., Bale, S.J. Nat. Genet. (1998) [Pubmed]
  3. Identification of genes associated with head and neck carcinogenesis by cDNA microarray comparison between matched primary normal epithelial and squamous carcinoma cells. Al Moustafa, A.E., Alaoui-Jamali, M.A., Batist, G., Hernandez-Perez, M., Serruya, C., Alpert, L., Black, M.J., Sladek, R., Foulkes, W.D. Oncogene (2002) [Pubmed]
  4. In vivo and in vitro expression of connexins in the human corneal epithelium. Shurman, D.L., Glazewski, L., Gumpert, A., Zieske, J.D., Richard, G. Invest. Ophthalmol. Vis. Sci. (2005) [Pubmed]
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