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Gene Review

GJC2  -  gap junction protein, gamma 2, 47kDa

Homo sapiens

Synonyms: CX46.6, CX47, Connexin-46.6, Connexin-47, Cx46.6, ...
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Disease relevance of GJA12


High impact information on GJA12


  1. Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination. Wolf, N.I., Cundall, M., Rutland, P., Rosser, E., Surtees, R., Benton, S., Chong, W.K., Malcolm, S., Ebinger, F., Bitner-Glindzicz, M., Woodward, K.J. Neurogenetics (2007) [Pubmed]
  2. Golli-MBP copy number analysis by FISH, QMPSF and MAPH in 195 patients with hypomyelinating leukodystrophies. Vaurs-Barriere, C., Bonnet-Dupeyron, M.N., Combes, P., Gauthier-Barichard, F., Reveles, X.T., Schiffmann, R., Bertini, E., Rodriguez, D., Vago, P., Armour, J.A., Saugier-Veber, P., Frebourg, T., Leach, R.J., Boespflug-Tanguy, O. Ann. Hum. Genet. (2006) [Pubmed]
  3. Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Uhlenberg, B., Schuelke, M., Rüschendorf, F., Ruf, N., Kaindl, A.M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu, F., Topaloğlu, H., Nürnberg, P., Hübner, C., Weschke, B., Gärtner, J. Am. J. Hum. Genet. (2004) [Pubmed]
  4. GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Bugiani, M., Al Shahwan, S., Lamantea, E., Bizzi, A., Bakhsh, E., Moroni, I., Balestrini, M.R., Uziel, G., Zeviani, M. Neurology (2006) [Pubmed]
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