Gene Review:
GJB3 - gap junction protein, beta 3, 31kDa
Homo sapiens
Synonyms:
CX31, Connexin-31, Cx31, DFNA2, DFNA2B, ...
Richard,
Smith,
Bailey,
Itin,
Hohl,
Epstein,
DiGiovanna,
Compton,
Bale,
Rouan,
Lo,
Fertala,
Wahl,
Jost,
Rodeck,
Uitto,
Richard,
Wangemann,
Richard,
Brown,
Rouan,
Van der Schroeff,
Bijlsma,
Eichenfield,
Sybert,
Greer,
Hogan,
Campanelli,
Compton,
Bale,
DiGiovanna,
Uitto,
Kelsell,
Wilgoss,
Richard,
Stevens,
Munro,
Leigh,
Arita,
Akiyama,
Tsuji,
Onozuka,
Shimizu,
- Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Xia, J.H., Liu, C.Y., Tang, B.S., Pan, Q., Huang, L., Dai, H.P., Zhang, B.R., Xie, W., Hu, D.X., Zheng, D., Shi, X.L., Wang, D.A., Xia, K., Yu, K.P., Liao, X.D., Feng, Y., Yang, Y.F., Xiao, J.Y., Xie, D.H., Huang, J.Z. Nat. Genet. (1998)
- Connexin 31 (GJB3) is expressed in the peripheral and auditory nerves and causes neuropathy and hearing impairment. López-Bigas, N., Olivé, M., Rabionet, R., Ben-David, O., Martínez-Matos, J.A., Bravo, O., Banchs, I., Volpini, V., Gasparini, P., Avraham, K.B., Ferrer, I., Arbonés, M.L., Estivill, X. Hum. Mol. Genet. (2001)
- Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies. Arita, K., Akiyama, M., Tsuji, Y., Onozuka, T., Shimizu, H. Acta Derm. Venereol. (2003)
- 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)
- Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. Elfgang, C., Eckert, R., Lichtenberg-Fraté, H., Butterweck, A., Traub, O., Klein, R.A., Hülser, D.F., Willecke, K. J. Cell Biol. (1995)
- 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)
- 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)
- The DFNA2 locus for hearing impairment: two genes regulating K+ ion recycling in the inner ear. Van Hauwe, P., Coucke, P., Van Camp, G. British journal of audiology. (1999)
- Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Di, W.L., Monypenny, J., Common, J.E., Kennedy, C.T., Holland, K.A., Leigh, I.M., Rugg, E.L., Zicha, D., Kelsell, D.P. Hum. Mol. Genet. (2002)
- 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)
- A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Gottfried, I., Landau, M., Glaser, F., Di, W.L., Ophir, J., Mevorah, B., Ben-Tal, N., Kelsell, D.P., Avraham, K.B. Hum. Mol. Genet. (2002)
- Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Diestel, S., Richard, G., Döring, B., Traub, O. Biochem. Biophys. Res. Commun. (2002)
- Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells. He, L.Q., Liu, Y., Cai, F., Tan, Z.P., Pan, Q., Liang, D.S., Long, Z.G., Wu, L.Q., Huang, L.Q., Dai, H.P., Xia, K., Xia, J.H., Zhang, Z.H. Acta Biochim. Biophys. Sin. (Shanghai) (2005)
- Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Kelsell, D.P., Wilgoss, A.L., Richard, G., Stevens, H.P., Munro, C.S., Leigh, I.M. Eur. J. Hum. Genet. (2000)
- K+ cycling and the endocochlear potential. Wangemann, P. Hear. Res. (2002)
- Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. Rouan, F., Lo, C.W., Fertala, A., Wahl, M., Jost, M., Rodeck, U., Uitto, J., Richard, G. Exp. Dermatol. (2003)
- Human gap junction protein connexin31: molecular cloning and expression analysis. Wenzel, K., Manthey, D., Willecke, K., Grzeschik, K.H., Traub, O. Biochem. Biophys. Res. Commun. (1998)
- Cx31 is assembled and trafficked to cell surface by ER-Golgi pathway and degraded by proteasomal or lysosomal pathways. He, L.Q., Cai, F., Liu, Y., Liu, M.J., Tan, Z.P., Pan, Q., Fang, F.Y., Liang, d.e. .S., Wu, L.Q., Long, Z.G., Dai, H.P., Xia, K., Xia, J.H., Zhang, Z.H. Cell Res. (2005)