1rgw: Difference between revisions
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{{STRUCTURE_1rgw| PDB=1rgw | SCENE= }} | {{STRUCTURE_1rgw| PDB=1rgw | SCENE= }} | ||
===Solution Structure of ZASP's PDZ domain=== | ===Solution Structure of ZASP's PDZ domain=== | ||
{{ABSTRACT_PUBMED_15062084}} | |||
==Disease== | |||
[[http://www.uniprot.org/uniprot/LDB3_HUMAN LDB3_HUMAN]] Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:[http://omim.org/entry/601493 601493]]. 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:14662268</ref><ref>PMID:14660611</ref> Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:[http://omim.org/entry/601493 601493]]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:[http://omim.org/entry/609452 609452]]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy. | |||
==Function== | |||
[[http://www.uniprot.org/uniprot/LDB3_HUMAN LDB3_HUMAN]] May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.[:] | |||
==About this Structure== | ==About this Structure== | ||
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==See Also== | ==See Also== | ||
*[[Group:MUZIC:ZASP|MUZIC:ZASP]] | *[[Group:MUZIC:ZASP|MUZIC:ZASP]] | ||
*[[ZASP protein|ZASP protein]] | |||
==Reference== | ==Reference== | ||
<ref group="xtra">PMID:015062084</ref><references group="xtra"/> | <ref group="xtra">PMID:015062084</ref><references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Atkinson, R A.]] | [[Category: Atkinson, R A.]] | ||
Revision as of 06:41, 25 March 2013
Solution Structure of ZASP's PDZ domainSolution Structure of ZASP's PDZ domain
Template:ABSTRACT PUBMED 15062084
DiseaseDisease
[LDB3_HUMAN] Defects in LDB3 are the cause of cardiomyopathy dilated type 1C (CMD1C) [MIM:601493]. 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.[1][2] Defects in LDB3 are the cause of left ventricular non-compaction type 3 (LVNC3) [MIM:601493]. Left ventricular non-compaction is characterized by numerous prominent trabeculations and deep intertrabecular recesses in hypertrophied and hypokinetic segments of the left ventricle. Defects in LDB3 are the cause of myopathy myofibrillar type 4 (MFM4) [MIM:609452]. A neuromuscular disorder characterized by distal and proximal muscle weakness with signs of cardiomyopathy and neuropathy.
FunctionFunction
[LDB3_HUMAN] May function as an adapter in striated muscle to couple protein kinase C-mediated signaling via its LIM domains to the cytoskeleton.[:]
About this StructureAbout this Structure
1rgw is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
See AlsoSee Also
ReferenceReference
- ↑ Au Y, Atkinson RA, Guerrini R, Kelly G, Joseph C, Martin SR, Muskett FW, Pallavicini A, Faulkner G, Pastore A. Solution structure of ZASP PDZ domain; implications for sarcomere ultrastructure and enigma family redundancy. Structure. 2004 Apr;12(4):611-22. PMID:15062084 doi:10.1016/j.str.2004.02.019
- ↑ Vatta M, Mohapatra B, Jimenez S, Sanchez X, Faulkner G, Perles Z, Sinagra G, Lin JH, Vu TM, Zhou Q, Bowles KR, Di Lenarda A, Schimmenti L, Fox M, Chrisco MA, Murphy RT, McKenna W, Elliott P, Bowles NE, Chen J, Valle G, Towbin JA. Mutations in Cypher/ZASP in patients with dilated cardiomyopathy and left ventricular non-compaction. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27. PMID:14662268
- ↑ Arimura T, Hayashi T, Terada H, Lee SY, Zhou Q, Takahashi M, Ueda K, Nouchi T, Hohda S, Shibutani M, Hirose M, Chen J, Park JE, Yasunami M, Hayashi H, Kimura A. A Cypher/ZASP mutation associated with dilated cardiomyopathy alters the binding affinity to protein kinase C. J Biol Chem. 2004 Feb 20;279(8):6746-52. Epub 2003 Dec 3. PMID:14660611 doi:10.1074/jbc.M311849200