2egq: Difference between revisions

<StructureSection load='2egq' size='340' side='right' caption='[[2egq]], [[NMR_Ensembles_of_Models | 20 NMR models]]' scene=''>

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

</td></tr><tr id='ligand'><td class="sblockLbl"><b>[[Ligand|Ligands:]]</b></td><td class="sblockDat"><scene name='pdbligand=ZN:ZINC+ION'>ZN</scene></td></tr>

<tr id='gene'><td class="sblockLbl"><b>[[Gene|Gene:]]</b></td><td class="sblockDat">FHL1 ([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=2egq FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=2egq OCA], [http://pdbe.org/2egq PDBe], [http://www.rcsb.org/pdb/explore.do?structureId=2egq RCSB], [http://www.ebi.ac.uk/pdbsum/2egq PDBsum], [http://prosat.h-its.org/prosat/prosatexe?pdbcode=2egq ProSAT], [http://www.topsan.org/Proteins/RSGI/2egq TOPSAN]</span></td></tr>

[[http://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN]] Defects in FHL1 are the cause of X-linked dominant scapuloperoneal myopathy (SPM) [MIM:[http://omim.org/entry/300695 300695]]. Scapuloperoneal syndrome (SPS) was initially described more than 120 years ago by Jules Broussard as 'une forme hereditaire d'atrophie musculaire progressive' beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm. The etiology of this condition remains unclear.<ref>PMID:18179901</ref>  Defects in FHL1 are the cause of X-linked myopathy with postural muscle atrophy (XMPMA) [MIM:[http://omim.org/entry/300696 300696]]. Myopathies are inherited muscle disorders characterized by weakness and atrophy of voluntary skeletal muscle, and several types of myopathy also show involvement of cardiac muscle. XMPMA is a distinct form of adult-onset X-linked recessive myopathy with several features in common with other myopathies, but the presentation of a pseudoathletic phenotype, scapuloperoneal weakness, and bent spine is unique and might render the clinical phenotype distinguishable from other myopathies.<ref>PMID:18179888</ref>  Defects in FHL1 are the cause of X-linked severe early-onset reducing body myopathy (RBM) [MIM:[http://omim.org/entry/300717 300717]]. RBM is a rare muscle disorder causing progressive muscular weakness and characteristic intracytoplasmic inclusions in myofibers. Clinical presentations of RBM have ranged from early onset fatal to childhood onset to adult onset cases.<ref>PMID:18274675</ref>  Defects in FHL1 are the cause of X-linked childhood-onset reducing body myopathy (CO-RBM) [MIM:[http://omim.org/entry/300718 300718]]. This disorder is allelic to severe early-onset reducing body myopathy (RBM) [MIM:[http://omim.org/entry/300717 300717]].  

[[http://www.uniprot.org/uniprot/FHL1_HUMAN FHL1_HUMAN]] May have an involvement in muscle development or hypertrophy.  

[[Category: Human]]

[[Category: Hayashi, F]]

[[Category: Inoue, K]]

[[Category: Structural genomic]]

[[Category: Yokoyama, S]]

[[Category: Structural protein]]