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
Storage instructionsShipped at 4°C. Store at 4°C (up to 6 months). Store at -20°C long term.
FunctionMay be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.
Tissue specificityHighly 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.
Involvement in diseaseDefects 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.
Sequence similaritiesBelongs to the dystrophin family. Dystrobrevin subfamily. Contains 1 ZZ-type zinc finger.
DomainThe coiled coil domain mediates the interaction with dystrophin and utrophin.
Post-translational modificationsPhosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.
Cellular localizationCytoplasm. Cell junction > synapse. Cell membrane. In peripheral nerves, co-localizes with MAGEE1 in the Schwann cell membrane.