Gene Review:
SH3TC2 - SH3 domain and tetratricopeptide repeats 2
Homo sapiens
Synonyms:
CMT4C, KIAA1985, MNMN, PP12494, SH3 domain and tetratricopeptide repeat-containing protein 2
Senderek,
Bergmann,
Stendel,
Kirfel,
Verpoorten,
De Jonghe,
Timmerman,
Chrast,
Verheijen,
Lemke,
Battaloglu,
Parman,
Erdem,
Tan,
Topaloglu,
Hahn,
Müller-Felber,
Rizzuto,
Fabrizi,
Stuhrmann,
Rudnik-Schöneborn,
Züchner,
Michael Schröder,
Buchheim,
Straub,
Klepper,
Huehne,
Rautenstrauss,
Büttner,
Nelis,
Zerres,
Azzedine,
Ravisé,
Verny,
Gabrëels-Festen,
Lammens,
Grid,
Vallat,
Durosier,
Senderek,
Nouioua,
Hamadouche,
Bouhouche,
Guilbot,
Stendel,
Ruberg,
Brice,
Birouk,
Dubourg,
Tazir,
LeGuern,
- Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Senderek, J., Bergmann, C., Stendel, C., Kirfel, J., Verpoorten, N., De Jonghe, P., Timmerman, V., Chrast, R., Verheijen, M.H., Lemke, G., Battaloglu, E., Parman, Y., Erdem, S., Tan, E., Topaloglu, H., Hahn, A., Müller-Felber, W., Rizzuto, N., Fabrizi, G.M., Stuhrmann, M., Rudnik-Schöneborn, S., Züchner, S., Michael Schröder, J., Buchheim, E., Straub, V., Klepper, J., Huehne, K., Rautenstrauss, B., Büttner, R., Nelis, E., Zerres, K. Am. J. Hum. Genet. (2003)
- The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C. Nagura, M., Nagao, Y., Takita, J., Igarashi, T., LeGuern, E., Hayashi, Y. Int. J. Mol. Med. (2003)
- Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. Colomer, J., Gooding, R., Angelicheva, D., King, R.H., Guillén-Navarro, E., Parman, Y., Nascimento, A., Conill, J., Kalaydjieva, L. Neuromuscul. Disord. (2006)
- Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Azzedine, H., Ravisé, N., Verny, C., Gabrëels-Festen, A., Lammens, M., Grid, D., Vallat, J.M., Durosier, G., Senderek, J., Nouioua, S., Hamadouche, T., Bouhouche, A., Guilbot, A., Stendel, C., Ruberg, M., Brice, A., Birouk, N., Dubourg, O., Tazir, M., LeGuern, E. Neurology (2006)