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
保存方法Shipped at 4°C. Store at 4°C (up to 6 months). Store at -20°C long term.
機能May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
組織特異性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.
関連疾患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.
配列類似性Belongs to the dystrophin family. Dystrobrevin subfamily. Contains 1 ZZ-type zinc finger.
ドメインThe coiled coil domain mediates the interaction with dystrophin and utrophin.
翻訳後修飾Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.
細胞内局在Cytoplasm. Cell junction > synapse. Cell membrane. In peripheral nerves, co-localizes with MAGEE1 in the Schwann cell membrane.