MTMR2
MTMR2 (Myotubularin related protein 2) هوَ بروتين يُشَفر بواسطة جين MTMR2 في الإنسان.[1][2][3]
الوظيفة
المراجع
- "A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast"، Nat. Genet.، 13 (2): 175–82، يوليو 1996، doi:10.1038/ng0696-175، PMID 8640223.
- "Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human"، Hum. Mol. Genet.، 7 (11): 1703–12، ديسمبر 1998، doi:10.1093/hmg/7.11.1703، PMID 9736772.
- "Entrez Gene: MTMR2 myotubularin related protein 2"، مؤرشف من الأصل في 05 ديسمبر 2010.
قراءة متعمقة
- "Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases"، Expert Rev Mol Med، 9 (25): 1–16، 2007، doi:10.1017/S1462399407000439، PMID 17880751.
- "Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase"، Proc. Natl. Acad. Sci. U.S.A.، 103 (4): 927–32، 2006، doi:10.1073/pnas.0510006103، PMC 1347996، PMID 16410353.
- "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، doi:10.1074/jbc.M505159200، PMID 15998640.
- "Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome"، Mol. Cell، 12 (6): 1391–402، 2003، doi:10.1016/S1097-2765(03)00486-6، PMID 14690594.
- "Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve"، Hum. Mol. Genet.، 12 (14): 1713–23، 2003، doi:10.1093/hmg/ddg179، PMID 12837694.
- "Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase"، Proc. Natl. Acad. Sci. U.S.A.، 100 (8): 4492–7، 2003، doi:10.1073/pnas.0431052100، PMC 153583، PMID 12668758.
- "A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths"، Neuromuscul. Disord.، 12 (9): 869–73، 2002، doi:10.1016/S0960-8966(02)00046-9، PMID 12398840.
- "Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2"، Nat. Genet.، 25 (1): 17–9، 2000، doi:10.1038/75542، PMID 10802647.
- "Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22"، Genomics، 63 (2): 271–8، 2000، doi:10.1006/geno.1999.6088، PMID 10673338.
- "Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro"، DNA Res.، 6 (3): 197–205، 1999، doi:10.1093/dnares/6.3.197، PMID 10470851.
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