GJB3 Gene

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Li, V. GJB3 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5656 (accessed on 21 September 2026).

Li V. GJB3 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5656. Accessed September 21, 2026.

Li, Vivi. "GJB3 Gene" Encyclopedia, https://encyclopedia.pub/entry/5656 (accessed September 21, 2026).

Li, V. (2020, December 25). GJB3 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5656

Li, Vivi. "GJB3 Gene." Encyclopedia. Web. 25 December, 2020.

GJB3 Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/gjb3

Gap junction protein beta 3

genes

References

Chi J, Li L, Liu M, Tan J, Tang C, Pan Q, Wang D, Zhang Z. Pathogenicconnexin-31 forms constitutively active hemichannels to promote necrotic celldeath. PLoS One. 2012;7(2):e32531. doi: 10.1371/journal.pone.0032531.
Diestel S, Richard G, Döring B, Traub O. Expression of a connexin31 mutationcausing erythrokeratodermia variabilis is lethal for HeLa cells. Biochem Biophys Res Commun. 2002 Aug 23;296(3):721-8.
Easton JA, Albuloushi AK, Kamps MAF, Brouns GHMR, Broers JLV, Coull BJ, Oji V,van Geel M, van Steensel MAM, Martin PE. A rare missense mutation in GJB3(Cx31G45E) is associated with a unique cellular phenotype resulting in necroticcell death. Exp Dermatol. 2019 Oct;28(10):1106-1113. doi: 10.1111/exd.13542.
Liu XZ, Xia XJ, Xu LR, Pandya A, Liang CY, Blanton SH, Brown SD, Steel KP,Nance WE. Mutations in connexin31 underlie recessive as well as dominantnon-syndromic hearing loss. Hum Mol Genet. 2000 Jan 1;9(1):63-7.
Oh SK, Choi SY, Yu SH, Lee KY, Hong JH, Hur SW, Kim SJ, Jeon CJ, Kim UK.Evaluation of the pathogenicity of GJB3 and GJB6 variants associated withnonsyndromic hearing loss. Biochim Biophys Acta. 2013 Jan;1832(1):285-91. doi:10.1016/j.bbadis.2012.05.009.
Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. ClinGenet. 2006 May;69(5):371-92. Review.
Richard G, Smith LE, Bailey RA, Itin P, Hohl D, Epstein EH Jr, DiGiovanna JJ, Compton JG, Bale SJ. Mutations in the human connexin gene GJB3 causeerythrokeratodermia variabilis. Nat Genet. 1998 Dec;20(4):366-9.
Scott CA, O'Toole EA, Mohungoo MJ, Messenger A, Kelsell DP. Novel andrecurrent connexin 30.3 and connexin 31 mutations associated witherythrokeratoderma variabilis. Clin Exp Dermatol. 2011 Jan;36(1):88-90.
Sugiura K, Arima M, Matsunaga K, Akiyama M. The novel GJB3 mutationp.Thr202Asn in the M4 transmembrane domain underlies erythrokeratodermiavariabilis. Br J Dermatol. 2015 Jul;173(1):309-11. doi: 10.1111/bjd.13641.
Xia JH, Liu CY, Tang BS, Pan Q, Huang L, Dai HP, Zhang BR, Xie W, Hu DX, ZhengD, Shi XL, Wang DA, Xia K, Yu KP, Liao XD, Feng Y, Yang YF, Xiao JY, Xie DH,Huang JZ. Mutations in the gene encoding gap junction protein beta-3 associatedwith autosomal dominant hearing impairment. Nat Genet. 1998 Dec;20(4):370-3.Erratum in: Nat Genet 1999 Feb;21(2):241.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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