This gene encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009].
Yuan, Chen, Yang, Gao, Zhang, Wu, Jacoby: "Expression pattern of connexins in the corneal and limbal epithelium of a primate." in: Cornea, Vol. 28, Issue 2, pp. 194-9, (2009) (PubMed).
Richard, Brown, Rouan, Van der Schroeff, Bijlsma, Eichenfield, Sybert, Greer, Hogan, Campanelli, Compton, Bale, DiGiovanna, Uitto: "Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations." in: The Journal of investigative dermatology, Vol. 120, Issue 4, pp. 601-9, (2003) (PubMed).
Ota, Suzuki, Nishikawa, Otsuki, Sugiyama, Irie, Wakamatsu, Hayashi, Sato, Nagai, Kimura, Makita, Sekine, Obayashi, Nishi, Shibahara, Tanaka, Ishii, Yamamoto, Saito, Kawai, Isono, Nakamura, Nagahari et al.: "Complete sequencing and characterization of 21,243 full-length human cDNAs. ..." in: Nature genetics, Vol. 36, Issue 1, pp. 40-5, (2003) (PubMed).
Macari, Landau, Cousin, Mevorah, Brenner, Panizzon, Schorderet, Hohl, Huber: "Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis." in: American journal of human genetics, Vol. 67, Issue 5, pp. 1296-301, (2000) (PubMed).
Aliases for GJB4 抗体
gap junction protein beta 4 (GJB4) 抗体 gap junction protein, beta 4 (Gjb4) 抗体 Cnx30.3 抗体 Cx30.3 抗体 CX30.3 抗体 EKV 抗体 Gjb-4 抗体 GJB4 抗体