1dxx
From Proteopedia
(Difference between revisions)
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== Structural highlights == | == Structural highlights == | ||
<table><tr><td colspan='2'>[[1dxx]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1DXX OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1DXX FirstGlance]. <br> | <table><tr><td colspan='2'>[[1dxx]] is a 4 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full crystallographic information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=1DXX OCA]. For a <b>guided tour on the structure components</b> use [http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1DXX FirstGlance]. <br> | ||
| - | </td></tr><tr><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1qag|1qag]]</td></tr> | + | </td></tr><tr id='related'><td class="sblockLbl"><b>[[Related_structure|Related:]]</b></td><td class="sblockDat">[[1qag|1qag]]</td></tr> |
| - | <tr><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 Homo sapiens])</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 Homo sapiens])</td></tr> |
| - | <tr><td class="sblockLbl"><b>Resources:</b></td><td class="sblockDat"><span class='plainlinks'>[http://oca.weizmann.ac.il/oca-docs/fgij/fg.htm?mol=1dxx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1dxx OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1dxx RCSB], [http://www.ebi.ac.uk/pdbsum/1dxx PDBsum]</span></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=1dxx FirstGlance], [http://oca.weizmann.ac.il/oca-bin/ocaids?id=1dxx OCA], [http://www.rcsb.org/pdb/explore.do?structureId=1dxx RCSB], [http://www.ebi.ac.uk/pdbsum/1dxx PDBsum]</span></td></tr> |
| - | <table> | + | </table> |
== Disease == | == Disease == | ||
[[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]] 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> | ||
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</StructureSection> | </StructureSection> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
| - | [[Category: Keep, N H | + | [[Category: Keep, N H]] |
| - | [[Category: Kendrick-Jones, J | + | [[Category: Kendrick-Jones, J]] |
| - | [[Category: Norwood, F L | + | [[Category: Norwood, F L]] |
| - | [[Category: Sutherland-Smith, A J | + | [[Category: Sutherland-Smith, A J]] |
[[Category: Actin-binding]] | [[Category: Actin-binding]] | ||
[[Category: Calponin homology domain]] | [[Category: Calponin homology domain]] | ||
Revision as of 22:45, 22 December 2014
N-TERMINAL ACTIN-BINDING DOMAIN OF HUMAN DYSTROPHIN
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