GJB4
Protein-coding gene in the species Homo sapiens
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 .[ 5]
References
Further reading
Andrew L Harris; Darren Locke (2009). Connexins, A Guide ISBN 978-1-934115-46-6 Gregory SG, Barlow KF, McLay KE, et al. (2006). "The DNA sequence and biological annotation of human chromosome 1" . Nature . 441 (7091): 315–21. Bibcode :2006Natur.441..315G . doi :10.1038/nature04727 PMID 16710414 . Common JE, O'Toole EA, Leigh IM, et al. (2006). "Clinical and genetic heterogeneity of erythrokeratoderma variabilis" . J. Invest. Dermatol . 125 (5): 920–7. doi :10.1111/j.0022-202X.2005.23919.x PMID 16297190 . Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)" . Genome Res . 14 (10B): 2121–7. doi :10.1101/gr.2596504 . PMC 528928 PMID 15489334 . Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs" . Nat. Genet . 36 (1): 40–5. doi :10.1038/ng1285 PMID 14702039 . Plantard L, Huber M, Macari F, et al. (2004). "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. doi :10.1093/hmg/ddg364 PMID 14583444 . Richard G, Brown N, Rouan F, et al. (2003). "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. doi :10.1046/j.1523-1747.2003.12080.x PMID 12648223 . Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. Bibcode :2002PNAS...9916899M . doi :10.1073/pnas.242603899 PMC 139241 PMID 12477932 . López-Bigas N, Melchionda S, Gasparini P, et al. (2002). "A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families" . Hum. Mutat . 19 (4): 458. doi :10.1002/humu.9023 PMID 11933201 . Manthey D, Banach K, Desplantez T, et al. (2001). "Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels". J. Membr. Biol . 181 (2): 137–48. doi :10.1007/s00232-001-0017-1 . PMID 11420600 . S2CID 6408361 . Macari F, Landau M, Cousin P, et al. (2000). "Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis" . Am. J. Hum. Genet . 67 (5): 1296–301. doi :10.1016/S0002-9297(07)62957-7 . PMC 1288569 PMID 11017804 . Hennemann H, Dahl E, White JB, et al. (1992). "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. doi :10.1016/S0021-9258(18)41916-3 PMID 1512260 . Hacham-Zadeh S, Even-Paz Z (1978). "Erythrokeratodermia variabilis in a Jewish Kurdish family". Clin. Genet . 13 (5): 404–8. doi :10.1111/j.1399-0004.1978.tb04138.x . PMID 148984 . S2CID 46050096 .
