Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
SBF2
Introduction
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].[2]
References
References
- ↑ Othmane KB, Johnson E, Menold M, Graham FL, Hamida MB, Hasegawa O, Rogala AD, Ohnishi A, Pericak-Vance M, Hentati F, Vance JM (Mar 2000). “Identification of a new locus for autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin on chromosome 11p15”. Genomics. 62 (3): 344–9. doi:10.1006/geno.1999.6028. PMID 10644431.
- ↑ 2.0 2.1 “Entrez Gene: SBF2 SET binding factor 2”.
Further reading
Further reading
- Gambardella A, Bolino A, Muglia M, et al. (1998). “Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)”. Neurology. 50 (3): 799–801. doi:10.1212/wnl.50.3.799. PMID 9521281.
- Nagase T, Kikuno R, Hattori A, et al. (2001). “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. doi:10.1093/dnares/7.6.347. PMID 11214970.
- Strausberg RL, Feingold EA, Grouse LH, et al. (2003). “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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
- Senderek J, Bergmann C, Weber S, et al. (2003). “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. doi:10.1093/hmg/ddg030. PMID 12554688.
- Azzedine H, Bolino A, Taïeb T, et al. (2003). “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. doi:10.1086/375034. PMC 1180267. PMID 12687498.
- Ota T, Suzuki Y, Nishikawa T, et al. (2004). “Complete sequencing and characterization of 21,243 full-length human cDNAs”. Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.
- Hirano R, Takashima H, Umehara F, et al. (2005). “SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma”. Neurology. 63 (3): 577–80. doi:10.1212/01.wnl.0000133211.40288.9a. PMID 15304601.
- Conforti FL, Muglia M, Mazzei R, et al. (2005). “A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2)”. Neurology. 63 (7): 1327–8. doi:10.1212/01.wnl.0000140617.02312.80. PMID 15477569.
- Gerhard DS, Wagner L, Feingold EA, et al. (2004). “The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)”. Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
- Robinson FL, Dixon JE (2005). “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. doi:10.1074/jbc.M505159200. PMID 15998640.
- Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). “Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes”. Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.