1eg3: Difference between revisions

<StructureSection load='1eg3' size='340' side='right'caption='[[1eg3]], [[Resolution|resolution]] 2.00&Aring;' scene=''>

<table><tr><td colspan='2'>[[1eg3]] is a 1 chain structure with sequence from [https://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1EG3 OCA]. For a <b>guided tour on the structure components</b> use [https://proteopedia.org/fgij/fg.htm?mol=1EG3 FirstGlance]. <br>

</td></tr><tr id='method'><td class="sblockLbl"><b>[[Empirical_models|Method:]]</b></td><td class="sblockDat" id="methodDat">X-ray diffraction, [[Resolution|Resolution]] 2&#8491;</td></tr>

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[https://proteopedia.org/fgij/fg.htm?mol=1eg3 FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1eg3 OCA], [https://pdbe.org/1eg3 PDBe], [https://www.rcsb.org/pdb/explore.do?structureId=1eg3 RCSB], [https://www.ebi.ac.uk/pdbsum/1eg3 PDBsum], [https://prosat.h-its.org/prosat/prosatexe?pdbcode=1eg3 ProSAT]</span></td></tr>

[https://www.uniprot.org/uniprot/DMD_HUMAN DMD_HUMAN] Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:[https://omim.org/entry/310200 310200]. DMD is the most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.<ref>PMID:8401582</ref> <ref>PMID:7981690</ref> <ref>PMID:8817332</ref> <ref>PMID:9851445</ref>  Defects in DMD are the cause of Becker muscular dystrophy (BMD) [MIM:[https://omim.org/entry/300376 300376]. BMD resembles DMD in hereditary and clinical features but is later in onset and more benign.<ref>PMID:10573008</ref>  Defects in DMD are a cause of cardiomyopathy dilated X-linked type 3B (CMD3B) [MIM:[https://omim.org/entry/302045 302045]; also known as X-linked dilated cardiomyopathy (XLCM). Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.<ref>PMID:9170407</ref> <ref>PMID:12354438</ref> <ref>PMID:12359139</ref>  

[https://www.uniprot.org/uniprot/DMD_HUMAN DMD_HUMAN] Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission.<ref>PMID:16710609</ref>  

     <scriptWhenChecked>; select protein; define ~consurf_to_do selected; consurf_initial_scene = true; script "/wiki/ConSurf/eg/1eg3_consurf.spt"</scriptWhenChecked>

==See Also==

[[Category: Homo sapiens]]

[[Category: Large Structures]]

[[Category: Eck MJ]]

[[Category: Huang X]]

[[Category: Joachimiak A]]

[[Category: Poy F]]

[[Category: Sudol M]]

[[Category: Zhang R]]