3uun: Difference between revisions

<table><tr><td colspan='2'>[[3uun]] 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=3UUN OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3UUN FirstGlance]. <br>

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

<tr id='resources'><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=3uun FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=3uun OCA], [http://pdbe.org/3uun PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=3uun RCSB], [http://www.ebi.ac.uk/pdbsum/3uun PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=3uun ProSAT]</span></td></tr>

[[http://www.uniprot.org/uniprot/DMD_HUMAN DMD_HUMAN]] Defects in DMD are the cause of Duchenne muscular dystrophy (DMD) [MIM:[http://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:[http://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:[http://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>   

[[http://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>