Synthetic peptide conjugated to KLH, corresponding to a region within C terminal amino acids 691-721 of Human Dystrobrevin alpha (NP_001381.2, NP_116760.2, NP_116763.1, NP_001382.2, NP_001383.2, NP_116761.2, NP_116757.2 and NP_116762.2).
Mouse heart tissue lysates
存放说明Shipped at 4°C. Store at 4°C (up to 6 months). Store at -20°C long term.
功能May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
组织特异性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. Isoform 7 and isoform 8 are only expressed in muscle.
疾病相关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 ventricule 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.
序列相似性Belongs to the dystrophin family. Dystrobrevin subfamily. Contains 1 ZZ-type zinc finger.
结构域The coiled coil domain mediates the interaction with dystrophin and utrophin.
翻译后修饰Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.
细胞定位Cytoplasm. Cell junction > synapse. Cell membrane. In peripheral nerves, co-localizes with MAGEE1 in the Schwann cell membrane.