Gene Review:
GJA3 - gap junction protein, alpha 3, 46kDa
Homo sapiens
Synonyms:
CTRCT14, CX46, CZP3, Connexin-46, Cx46, ...
- A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q. Bennett, T.M., Mackay, D.S., Knopf, H.L., Shiels, A. Mol. Vis. (2004)
- Connexin46 is retained as monomers in a trans-Golgi compartment of osteoblastic cells. Koval, M., Harley, J.E., Hick, E., Steinberg, T.H. J. Cell Biol. (1997)
- Connexin46 mutations in autosomal dominant congenital cataract. Mackay, D., Ionides, A., Kibar, Z., Rouleau, G., Berry, V., Moore, A., Shiels, A., Bhattacharya, S. Am. J. Hum. Genet. (1999)
- A novel mutation in GJA3 (connexin46) for autosomal dominant congenital nuclear pulverulent cataract. Jiang, H., Jin, Y., Bu, L., Zhang, W., Liu, J., Cui, B., Kong, X., Hu, L. Mol. Vis. (2003)
- Novel mutations in GJA3 associated with autosomal dominant congenital cataract in the Indian population. Devi, R.R., Reena, C., Vijayalakshmi, P. Mol. Vis. (2005)
- Connexin46 mutations linked to congenital cataract show loss of gap junction channel function. Pal, J.D., Liu, X., Mackay, D., Shiels, A., Berthoud, V.M., Beyer, E.C., Ebihara, L. Am. J. Physiol., Cell Physiol. (2000)
- Nerve injury and inflammatory cytokines modulate gap junctions in the peripheral nervous system. Chandross, K.J. Glia (1998)
- Heterocellular gap junctional communication between alveolar epithelial cells. Abraham, V., Chou, M.L., George, P., Pooler, P., Zaman, A., Savani, R.C., Koval, M. Am. J. Physiol. Lung Cell Mol. Physiol. (2001)
- Gap junction protein phenotypes of the human heart and conduction system. Davis, L.M., Rodefeld, M.E., Green, K., Beyer, E.C., Saffitz, J.E. J. Cardiovasc. Electrophysiol. (1995)
- Cosegregation of permeability and single-channel conductance in chimeric connexins. Ma, M., Dahl, G. Biophys. J. (2006)
- Conductance of connexin hemichannels segregates with the first transmembrane segment. Hu, X., Ma, M., Dahl, G. Biophys. J. (2006)
- A novel mutation in the connexin 46 gene (GJA3) causes autosomal dominant zonular pulverulent cataract in a Hispanic family. Addison, P.K., Berry, V., Holden, K.R., Espinal, D., Rivera, B., Su, H., Srivastava, A.K., Bhattacharya, S.S. Mol. Vis. (2006)
- Chemical gating of gap junction channels; roles of calcium, pH and calmodulin. Peracchia, C. Biochim. Biophys. Acta (2004)
- Connexin gene mutations in human genetic diseases. Krutovskikh, V., Yamasaki, H. Mutat. Res. (2000)
- The first extracellular loop domain is a major determinant of charge selectivity in connexin46 channels. Trexler, E.B., Bukauskas, F.F., Kronengold, J., Bargiello, T.A., Verselis, V.K. Biophys. J. (2000)
- Length of C-terminus of rCx46 influences oligomerization and hemichannel properties. Zeilinger, C., Steffens, M., Kolb, H.A. Biochim. Biophys. Acta (2005)
- Gap junction structures and distribution patterns of immunoreactive connexins 46 and 50 in lens regrowths of Rhesus monkeys. Lo, W.K., Shaw, A.P., Takemoto, L.J., Grossniklaus, H.E., Tigges, M. Exp. Eye Res. (1996)
- Assignment of connexin 26 (GJB2) and 46 (GJA3) genes to human chromosome 13q11-->q12 and mouse chromosome 14D1-E1 by in situ hybridization. Mignon, C., Fromaget, C., Mattei, M.G., Gros, D., Yamasaki, H., Mesnil, M. Cytogenet. Cell Genet. (1996)
- Effect of external magnesium and calcium on human connexin46 hemichannels. Ebihara, L., Liu, X., Pal, J.D. Biophys. J. (2003)