Gene Review:
SBF2 - SET binding factor 2
Homo sapiens
Synonyms:
CMT4B2, DENND7B, KIAA1766, MTMR13, Myotubularin-related protein 13, ...
- Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Azzedine, H., Bolino, A., Taïeb, T., Birouk, N., Di Duca, M., Bouhouche, A., Benamou, S., Mrabet, A., Hammadouche, T., Chkili, T., Gouider, R., Ravazzolo, R., Brice, A., Laporte, J., LeGuern, E. Am. J. Hum. Genet. (2003)
- The phosphatidylinositol 3-phosphate phosphatase myotubularin- related protein 6 (MTMR6) is a negative regulator of the Ca2+-activated K+ channel KCa3.1. Srivastava, S., Li, Z., Lin, L., Liu, G., Ko, K., Coetzee, W.A., Skolnik, E.Y. Mol. Cell. Biol. (2005)
- Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Berger, P., Berger, I., Schaffitzel, C., Tersar, K., Volkmer, B., Suter, U. Hum. Mol. Genet. (2006)
- Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Senderek, J., Bergmann, C., Weber, S., Ketelsen, U.P., Schorle, H., Rudnik-Schöneborn, S., Büttner, R., Buchheim, E., Zerres, K. Hum. Mol. Genet. (2003)
- The effect of pH on the structural evolution of accelerated biomimetic apatite. Chou, Y.F., Chiou, W.A., Xu, Y., Dunn, J.C., Wu, B.M. Biomaterials (2004)
- SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Hirano, R., Takashima, H., Umehara, F., Arimura, H., Michizono, K., Okamoto, Y., Nakagawa, M., Boerkoel, C.F., Lupski, J.R., Osame, M., Arimura, K. Neurology (2004)
- The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. Robinson, F.L., Dixon, J.E. J. Biol. Chem. (2005)
- Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. Kirfel, J., Senderek, J., Moser, M., Röper, A., Stendel, C., Bergmann, C., Zerres, K., Buettner, R. Gene Expr. Patterns (2006)