Gene Review:
GJB4 - gap junction protein, beta 4, 30.3kDa
Homo sapiens
Synonyms:
CX30.3, Connexin-30.3, Cx30.3, EKV, Gap junction beta-4 protein
Van Steensel,
Van Geel,
Steijlen,
Richard,
Brown,
Rouan,
Van der Schroeff,
Bijlsma,
Eichenfield,
Sybert,
Greer,
Hogan,
Campanelli,
Compton,
Bale,
DiGiovanna,
Uitto,
- A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. López-Bigas, N., Melchionda, S., Gasparini, P., Borragán, A., Arbonés, M.L., Estivill, X. Hum. Mutat. (2002)
- Clinical and genetic heterogeneity of erythrokeratoderma variabilis. Common, J.E., O'Toole, E.A., Leigh, I.M., Thomas, A., Griffiths, W.A., Venning, V., Grabczynska, S., Peris, Z., Kansky, A., Kelsell, D.P. J. Invest. Dermatol. (2005)
- Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis. Richard, G., Smith, L.E., Bailey, R.A., Itin, P., Hohl, D., Epstein, E.H., DiGiovanna, J.J., Compton, J.G., Bale, S.J. Nat. Genet. (1998)
- Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis. Macari, F., Landau, M., Cousin, P., Mevorah, B., Brenner, S., Panizzon, R., Schorderet, D.F., Hohl, D., Huber, M. Am. J. Hum. Genet. (2000)
- Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis. Plantard, L., Huber, M., Macari, F., Meda, P., Hohl, D. Hum. Mol. Genet. (2003)
- Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. Hennemann, H., Dahl, E., White, J.B., Schwarz, H.J., Lalley, P.A., Chang, S., Nicholson, B.J., Willecke, K. J. Biol. Chem. (1992)
- Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations. Richard, G., Brown, N., Rouan, F., Van der Schroeff, J.G., Bijlsma, E., Eichenfield, L.F., Sybert, V.P., Greer, K.E., Hogan, P., Campanelli, C., Compton, J.G., Bale, S.J., DiGiovanna, J.J., Uitto, J. J. Invest. Dermatol. (2003)
- The vertebrate connexin family. Cruciani, V., Mikalsen, S.O. Cell. Mol. Life Sci. (2006)
- Further delineation of the hypotrichosis-deafness syndrome. Van Steensel, M.A., Van Geel, M., Steijlen, P.M. European journal of dermatology : EJD. (2005)