1m7r: Difference between revisions

<table><tr><td colspan='2'>[[1m7r]] is a 2 chain structure with sequence from [http://en.wikipedia.org/wiki/Human Human]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1M7R OCA]. For a <b>guided tour on the structure components</b> use [http://proteopedia.org/fgij/fg.htm?mol=1M7R FirstGlance]. <br>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">MTMR2 ([http://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?mode=Info&srchmode=5&id=9606 HUMAN])</td></tr>

<tr id='activity'><td class="sblockLbl"><b>Activity:</b></td><td class="sblockDat"><span class='plainlinks'>[http://en.wikipedia.org/wiki/Phosphatidylinositol-3-phosphatase Phosphatidylinositol-3-phosphatase], with EC number [http://www.brenda-enzymes.info/php/result_flat.php4?ecno=3.1.3.64 3.1.3.64] </span></td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://proteopedia.org/fgij/fg.htm?mol=1m7r FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1m7r OCA], [http://pdbe.org/1m7r PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=1m7r RCSB], [http://www.ebi.ac.uk/pdbsum/1m7r PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=1m7r ProSAT]</span></td></tr>

[[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>   

[[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>