2e5r
From Proteopedia
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{{STRUCTURE_2e5r| PDB=2e5r | SCENE= }} | {{STRUCTURE_2e5r| PDB=2e5r | SCENE= }} | ||
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===Solution structure of the ZZ domain of Dystrobrevin alpha (Dystrobrevin-alpha)=== | ===Solution structure of the ZZ domain of Dystrobrevin alpha (Dystrobrevin-alpha)=== | ||
| + | ==Disease== | ||
| + | [[http://www.uniprot.org/uniprot/DTNA_HUMAN DTNA_HUMAN]] Defects in DTNA are the cause of left ventricular non-compaction type 1 (LVNC1) [MIM:[http://omim.org/entry/604169 604169]]. Left ventricular non-compaction is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies such as ventricular septal defects, pulmonic stenosis and atrial septal defects. The right ventricle may also be affected.<ref>PMID:11238270</ref> | ||
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| + | ==Function== | ||
| + | [[http://www.uniprot.org/uniprot/DTNA_HUMAN DTNA_HUMAN]] May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors. | ||
==About this Structure== | ==About this Structure== | ||
[[2e5r]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2E5R OCA]. | [[2e5r]] is a 1 chain structure with sequence from [http://en.wikipedia.org/wiki/Homo_sapiens Homo sapiens]. Full experimental information is available from [http://oca.weizmann.ac.il/oca-bin/ocashort?id=2E5R OCA]. | ||
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| + | ==Reference== | ||
| + | <references group="xtra"/><references/> | ||
[[Category: Homo sapiens]] | [[Category: Homo sapiens]] | ||
[[Category: Dang, W.]] | [[Category: Dang, W.]] | ||
Revision as of 23:37, 24 March 2013
Contents |
Solution structure of the ZZ domain of Dystrobrevin alpha (Dystrobrevin-alpha)
Disease
[DTNA_HUMAN] Defects in DTNA are the cause of left ventricular non-compaction type 1 (LVNC1) [MIM:604169]. Left ventricular non-compaction is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricle with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, it is associated with other congenital heart anomalies such as ventricular septal defects, pulmonic stenosis and atrial septal defects. The right ventricle may also be affected.[1]
Function
[DTNA_HUMAN] May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
About this Structure
2e5r is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA.
Reference
- ↑ Ichida F, Tsubata S, Bowles KR, Haneda N, Uese K, Miyawaki T, Dreyer WJ, Messina J, Li H, Bowles NE, Towbin JA. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001 Mar 6;103(9):1256-63. PMID:11238270
Categories: Homo sapiens | Dang, W. | Inoue, M. | Kigawa, T. | Muto, Y. | RSGI, RIKEN Structural Genomics/Proteomics Initiative. | Shirouzu, M. | Terada, T. | Yokoyama, S. | Dna binding protein | Dystrobrevin alpha | Dystrobrevin-alpha | National project on protein structural and functional analyse | Nppsfa | Riken structural genomics/proteomics initiative | Rsgi | Structural genomic | Zz domain
