GJB2 Gene

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Li, V. GJB2 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5654 (accessed on 21 September 2026).

Li V. GJB2 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5654. Accessed September 21, 2026.

Li, Vivi. "GJB2 Gene" Encyclopedia, https://encyclopedia.pub/entry/5654 (accessed September 21, 2026).

Li, V. (2020, December 25). GJB2 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5654

Li, Vivi. "GJB2 Gene." Encyclopedia. Web. 25 December, 2020.

GJB2 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/gjb2

Gap junction protein beta 2

genes

References

Lee JR, White TW. Connexin-26 mutations in deafness and skin disease. ExpertRev Mol Med. 2009 Nov 19;11:e35. doi: 10.1017/S1462399409001276. Review.
Marlin S, Feldmann D, Blons H, Loundon N, Rouillon I, Albert S, Chauvin P,Garabédian EN, Couderc R, Odent S, Joannard A, Schmerber S, Delobel B, Leman J,Journel H, Catros H, Lemarechal C, Dollfus H, Eliot MM, Delaunoy JL, David A,Calais C, Drouin-Garraud V, Obstoy MF, Goizet C, Duriez F, Fellmann F, Hélias J, Vigneron J, Montaut B, Matin-Coignard D, Faivre L, Baumann C, Lewin P, Petit C,Denoyelle F. GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg. 2005 Jun;131(6):481-7.
Nickel R, Forge A. Gap junctions and connexins in the inner ear: their rolesin homeostasis and deafness. Curr Opin Otolaryngol Head Neck Surg. 2008Oct;16(5):452-7. doi: 10.1097/MOO.0b013e32830e20b0. Review.
Sanchez HA, Verselis VK. Aberrant Cx26 hemichannels andkeratitis-ichthyosis-deafness syndrome: insights into syndromic hearing loss.Front Cell Neurosci. 2014 Oct 27;8:354. doi: 10.3389/fncel.2014.00354.
Smith RJH, Jones MKN. Nonsyndromic Hearing Loss and Deafness, DFNB1. 1998 Sep 28 [updated 2016 Aug 18]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1272/
Smith RJH, Ranum PT. Nonsyndromic Hearing Loss and Deafness, DFNA3. 1998 Sep28 [updated 2016 Dec 22]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, BeanLJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA):University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1536/
Tsukada K, Nishio SY, Hattori M, Usami S. Ethnic-specific spectrum of GJB2 andSLC26A4 mutations: their origin and a literature review. Ann Otol RhinolLaryngol. 2015 May;124 Suppl 1:61S-76S. doi: 10.1177/0003489415575060. Review.
Xu J, Nicholson BJ. The role of connexins in ear and skin physiology -functional insights from disease-associated mutations. Biochim Biophys Acta. 2013Jan;1828(1):167-78. doi: 10.1016/j.bbamem.2012.06.024.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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