Gene Symbol: Sbf2
Description: SET binding factor 2
Alias: 4833411B01Rik, AA414977, AI317167, B430219L04Rik, Mtmr13, mMTMH1, myotubularin-related protein 13, myotubularin related protein 13, myotubularin-related protein 5
Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U. Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet. 2006;15:569-79 pubmed
Mutations in myotubularin-related protein-2 (MTMR2) or MTMR13/set-binding factor-2 (SBF2) genes are responsible for the severe autosomal recessive hereditary neuropathies, Charcot-Marie-Tooth disease (CMT) types 4B1 and 4B2, both ..
Tersar K, Boentert M, Berger P, Bonneick S, Wessig C, Toyka K, et al
. Mtmr13/Sbf2-deficient mice: an animal model for CMT4B2. Hum Mol Genet. 2007;16:2991-3001 pubmed
..Mutations in the Myotubularin-Related Protein-2 (MTMR2) or MTMR13/Set-Binding Factor-2 (SBF2) genes are associated with the autosomal recessive disease subtypes CMT4B1 or CMT4B2...
Robinson F, Niesman I, Beiswenger K, Dixon J. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice. Proc Natl Acad Sci U S A. 2008;105:4916-21 pubmed publisher
..CMT4B is caused by recessive mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2)...
Berger P, Tersar K, Ballmer Hofer K, Suter U. The CMT4B disease-causing proteins MTMR2 and MTMR13/SBF2 regulate AKT signalling. J Cell Mol Med. 2011;15:307-15 pubmed publisher
..encoding either the lipid phosphatase myotubularin-related protein-2 (MTMR2) or its regulatory binding partner MTMR13/SBF2...
Ng A, Logan A, Schmidt E, Robinson F. The CMT4B disease-causing phosphatases Mtmr2 and Mtmr13 localize to the Schwann cell cytoplasm and endomembrane compartments, where they depend upon each other to achieve wild-type levels of protein expression. Hum Mol Genet. 2013;22:1493-506 pubmed publisher
..CMT4B results from mutations in either myotubularin-related protein 2 (MTMR2; CMT4B1) or MTMR13 (CMT4B2), phosphoinositide (PI) 3-phosphatases that dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) ..
Laporte J, Blondeau F, Buj Bello A, Tentler D, Kretz C, Dahl N, et al
. Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human. Hum Mol Genet. 1998;7:1703-12 pubmed
..Comparison of the various genes allowed construction of a phylogenetic tree and reveals conserved residues which may be essential for function. These genes may be good candidates for other genetic diseases. ..
Kirfel J, Senderek J, Moser M, Röper A, Stendel C, Bergmann C, et al
. Cloning, expression and characterization of the murine orthologue of SBF2, the gene mutated in Charcot-Marie-Tooth disease type 4B2. Gene Expr Patterns. 2006;6:978-84 pubmed
..Recently, mutations in SET binding factor 2 (SBF2), were identified as cause of CMT4B2...