SBF2 explained
Myotubularin-related protein 13 is a protein that in humans is encoded by the SBF2 gene.[1] [2]
The family of myotubularin-related proteins includes lipid phosphatases, such as MTM1 (MIM 600415), and pseudophosphatases, such as SBF1 (MIM 603560) and SBF2. Pseudophosphatases contain inactivating substitutions at the catalytic cysteine [supplied by OMIM].[3]
Further reading
- Gambardella A, Bolino A, Muglia M, etal . Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). . Neurology . 50 . 3 . 799–801 . 1998 . 9521281 . 10.1212/wnl.50.3.799. 27056666 .
- Nagase T, Kikuno R, Hattori A, etal . Prediction of the coding sequences of unidentified human genes. XIX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. . DNA Res. . 7 . 6 . 347–55 . 2001 . 11214970 . 10.1093/dnares/7.6.347 . free .
- Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
- Senderek J, Bergmann C, Weber S, etal . Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. . Hum. Mol. Genet. . 12 . 3 . 349–56 . 2003 . 12554688 . 10.1093/hmg/ddg030 . free .
- Azzedine H, Bolino A, Taïeb T, etal . 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. . Am. J. Hum. Genet. . 72 . 5 . 1141–53 . 2003 . 12687498 . 10.1086/375034 . 1180267 .
- Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
- Hirano R, Takashima H, Umehara F, etal . SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. . Neurology . 63 . 3 . 577–80 . 2005 . 15304601 . 10.1212/01.wnl.0000133211.40288.9a. 34376413 .
- Conforti FL, Muglia M, Mazzei R, etal . A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2). . Neurology . 63 . 7 . 1327–8 . 2005 . 15477569 . 10.1212/01.wnl.0000140617.02312.80. 11800190 .
- Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
- Robinson FL, Dixon JE . The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. . J. Biol. Chem. . 280 . 36 . 31699–707 . 2005 . 15998640 . 10.1074/jbc.M505159200 . free .
- Kimura K, Wakamatsu A, Suzuki Y, etal . Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. . Genome Res. . 16 . 1 . 55–65 . 2006 . 16344560 . 10.1101/gr.4039406 . 1356129 .
External links
Notes and References
- Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM . Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15 . Genomics . 62 . 3 . 344–9 . Mar 2000 . 10644431 . 10.1006/geno.1999.6028 .
- Web site: Entrez Gene: SBF2 SET binding factor 2.
- Web site: Entrez Gene: SBF2 SET binding factor 2.
