GJB4 explained

Gap junction beta-4 protein (GJB4), also known as connexin 30.3 (Cx30.3) — is a protein that in humans is encoded by the GJB4 gene.^[1]

Further reading

• Book: Andrew L Harris . Darren Locke . Connexins, A Guide . Springer . 2009 . New York . 574 . 978-1-934115-46-6.
• Gregory SG, Barlow KF, McLay KE . The DNA sequence and biological annotation of human chromosome 1. . Nature . 441 . 7091 . 315–21 . 2006 . 16710414 . 10.1038/nature04727 . 2006Natur.441..315G . etal. free .
• Common JE, O'Toole EA, Leigh IM . Clinical and genetic heterogeneity of erythrokeratoderma variabilis. . J. Invest. Dermatol. . 125 . 5 . 920–7 . 2006 . 16297190 . 10.1111/j.0022-202X.2005.23919.x . etal. free .
• Gerhard DS, Wagner L, Feingold EA . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 . etal.
• Ota T, Suzuki Y, Nishikawa T . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . etal. free .
• Plantard L, Huber M, Macari F . Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. . Hum. Mol. Genet. . 12 . 24 . 3287–94 . 2004 . 14583444 . 10.1093/hmg/ddg364 . etal. free .
• Richard G, Brown N, Rouan F . Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. . J. Invest. Dermatol. . 120 . 4 . 601–9 . 2003 . 12648223 . 10.1046/j.1523-1747.2003.12080.x . etal. free .
• Strausberg RL, Feingold EA, Grouse LH . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . etal. free .
• López-Bigas N, Melchionda S, Gasparini P . A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. . Hum. Mutat. . 19 . 4 . 458 . 2002 . 11933201 . 10.1002/humu.9023 . etal. free .
• Manthey D, Banach K, Desplantez T . Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels. . J. Membr. Biol. . 181 . 2 . 137–48 . 2001 . 11420600 . 10.1007/s00232-001-0017-1. 6408361 . etal.
• Macari F, Landau M, Cousin P . Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. . Am. J. Hum. Genet. . 67 . 5 . 1296–301 . 2000 . 11017804 . 10.1016/S0002-9297(07)62957-7 . 1288569 . etal.
• Hennemann H, Dahl E, White JB . Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. . J. Biol. Chem. . 267 . 24 . 17225–33 . 1992 . 10.1016/S0021-9258(18)41916-3 . 1512260 . etal. free .
• Hacham-Zadeh S, Even-Paz Z . Erythrokeratodermia variabilis in a Jewish Kurdish family. . Clin. Genet. . 13 . 5 . 404–8 . 1978 . 148984 . 10.1111/j.1399-0004.1978.tb04138.x . 46050096 .

Notes and References

1. Web site: Entrez Gene: GJB4 gap junction protein, beta 4.