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Gene Review

SH3TC2  -  SH3 domain and tetratricopeptide repeats 2

Homo sapiens

Synonyms: CMT4C, KIAA1985, MNMN, PP12494, SH3 domain and tetratricopeptide repeat-containing protein 2
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Disease relevance of SH3TC2


High impact information on SH3TC2

  • The CMT4C gene is strongly expressed in neural tissues, including peripheral nerve tissue [1].
  • CMT4C is inherited as an autosomal recessive trait and has been mapped to a 13-cM linkage interval on chromosome 5q23-q33 [1].
  • Phenotype similarity in first degree relatives and increasing heterogeneity in more distantly related subjects point to the involvement of genetic modifiers, possibly variants in the genes encoding protein partners interacting with SH3TC2 [3].
  • METHODS: The authors searched for SH3TC2 gene mutations in 10 consanguineous CMT families putatively linked to the CMT4C locus on the basis of haplotype segregation and linkage analysis [4].

Anatomical context of SH3TC2

  • We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor and sensory involvement, scoliosis, and cranial nerve involvement, suggesting that the phenotypic spectrum of CMT4C disease is much broader than the classical diagnostic criteria [3].


  1. 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) [Pubmed]
  2. 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) [Pubmed]
  3. 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) [Pubmed]
  4. 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) [Pubmed]
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