connexin-26; gap junction protein beta-2 (CX26, GJB2)

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Function

Structure

  • belongs to the connexin family, beta-type (group I) subfamily

Compartment

Pathology

Polymorphism

Laboratory

More general terms

References

  1. Swiss Prot :accession P29033
  2. Connexin-deafness homepage http://davinci.crg.es/deafness/
  3. Hereditary hearing loss homepage; Note: gene page http://webhost.ua.ac.be/hhh/
  4. GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=GJB2
  5. 5.0 5.1 5.2 D'Adamo P et al. Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? Eur J Hum Genet 2009 Mar; 17:284. PMID: https://www.ncbi.nlm.nih.gov/pubmed/19050724
  6. Kelsell DP et al Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. Nature. 1997 May 1;387(6628):80-3 PMID: https://www.ncbi.nlm.nih.gov/pubmed/9139825

Database