1lw3
From Proteopedia
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{{STRUCTURE_1lw3| PDB=1lw3 | SCENE= }} | {{STRUCTURE_1lw3| PDB=1lw3 | SCENE= }} | ||
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===Crystal Structure of Myotubularin-related protein 2 complexed with phosphate=== | ===Crystal Structure of Myotubularin-related protein 2 complexed with phosphate=== | ||
| + | {{ABSTRACT_PUBMED_14690594}} | ||
| - | + | ==Disease== | |
| + | [[http://www.uniprot.org/uniprot/MTMR2_HUMAN MTMR2_HUMAN]] Defects in MTMR2 are the cause of Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:[http://omim.org/entry/601382 601382]]. CMT4B1 is a recessive, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.<ref>PMID:10802647</ref><ref>PMID:12398840</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/MTMR2_HUMAN MTMR2_HUMAN]] Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate.<ref>PMID:12668758</ref><ref>PMID:21372139</ref> | ||
==About this Structure== | ==About this Structure== | ||
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==Reference== | ==Reference== | ||
| - | <ref group="xtra">PMID:014690594</ref><references group="xtra"/> | + | <ref group="xtra">PMID:014690594</ref><references group="xtra"/><references/> |
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Phosphatidylinositol-3-phosphatase]] | [[Category: Phosphatidylinositol-3-phosphatase]] | ||
Revision as of 23:46, 24 March 2013
Contents |
Crystal Structure of Myotubularin-related protein 2 complexed with phosphate
Template:ABSTRACT PUBMED 14690594
Disease
[MTMR2_HUMAN] Defects in MTMR2 are the cause of Charcot-Marie-Tooth disease type 4B1 (CMT4B1) [MIM:601382]. CMT4B1 is a recessive, severe form of Charcot-Marie-Tooth disease, the most common inherited disorder of the peripheral nervous system. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathy and primary peripheral axonal neuropathy. Demyelinating CMT neuropathies are characterized by severely reduced nerve conduction velocities (less than 38 m/sec), segmental demyelination and remyelination with onion bulb formations on nerve biopsy, slowly progressive distal muscle atrophy and weakness, absent deep tendon reflexes, and hollow feet. By convention, autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease are designated CMT4.[1][2]
Function
[MTMR2_HUMAN] Phosphatase that acts on lipids with a phosphoinositol headgroup. Has phosphatase activity towards phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate.[3][4]
About this Structure
1lw3 is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA.
Reference
- Begley MJ, Taylor GS, Kim SA, Veine DM, Dixon JE, Stuckey JA. Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome. Mol Cell. 2003 Dec;12(6):1391-402. PMID:14690594
- ↑ Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat Genet. 2000 May;25(1):17-9. PMID:10802647 doi:10.1038/75542
- ↑ Nelis E, Erdem S, Tan E, Lofgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H. 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. 2002 Nov;12(9):869-73. PMID:12398840
- ↑ Kim SA, Vacratsis PO, Firestein R, Cleary ML, Dixon JE. Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase. Proc Natl Acad Sci U S A. 2003 Apr 15;100(8):4492-7. Epub 2003 Mar 31. PMID:12668758 doi:10.1073/pnas.0431052100
- ↑ Franklin NE, Taylor GS, Vacratsis PO. Endosomal targeting of the phosphoinositide 3-phosphatase MTMR2 is regulated by an N-terminal phosphorylation site. J Biol Chem. 2011 May 6;286(18):15841-53. doi: 10.1074/jbc.M110.209122. Epub 2011, Mar 3. PMID:21372139 doi:10.1074/jbc.M110.209122
