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2e5r
From Proteopedia
Revision as of 00:34, 30 September 2014 by OCA (Talk | contribs)
2e5r is a 1 chain structure with sequence from Homo sapiens. Full experimental information is available from OCA. For a guided tour on the structure components use FirstGlance.
[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.
Evolutionary Conservation
Check, as determined by ConSurfDB. You may read the explanation of the method and the full data available from ConSurf.
References
↑ 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
