DTNA rabbit pAb

alternative products:Additional isoforms seem to exist,disease:Defects in DTNA are a cause of non-compaction of left ventricular myocardium with congenital heart defects (LVNCCHD) [MIM:606617]; also known as non-isolated left ventricular non-compaction. LVNCCHD is associated with congenital heart anomalies such as ventricular septal defects, pulmonic stenosis, and atrial septal defects.,disease:Defects in DTNA are the cause of non-compaction of left ventricular myocardium isolated autosomal dominant type 1 (LVNC1) [MIM:604169]. Left ventricular non-compaction (LVNC) is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricular with deep trabeculations and with poor systolic function, with or without associated left ventricular dilation. In some cases, the right ventricle is also affected.,domain:The coiled coil domain mediates the interaction with dystrophin and utrophin.,function:May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.,PTM:Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.,similarity:Belongs to the dystrophin family. Dystrobrevin subfamily.,similarity:Contains 1 ZZ-type zinc finger.,subunit:Interacts with dystrophin, utrophin and the syntrophins SNTA1, SNTB1, SNTB2, SNTG1 and SNTG2. Isoforms 7 and 8 do not interact with dystrophin. Binds dystrobrevin binding protein 1.,tissue specificity:Highly expressed in brain, skeletal and cardiac muscles, and expressed at lower levels in lung, liver and pancreas. Isoform 2 is not expressed in cardiac muscle. Isoforms 7 and 8 are only expressed in muscle.,