DTNA
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.
Involvement in disease
Left ventricular non-compaction 1
LVNC1
A form of left ventricular non-compaction, a cardiomyopathy due to myocardial morphogenesis arrest and characterized by a hypertrophic left ventricle, a severely thickened 2-layered myocardium, numerous prominent trabeculations, deep intertrabecular recesses, and poor systolic function. Clinical manifestations are variable. Some affected individuals experience no symptoms at all, others develop heart failure. In some cases, left ventricular non-compaction is associated with other congenital heart anomalies. LVNC1 is an autosomal dominant condition.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.
Sequence Similarities
Belongs to the dystrophin family. Dystrobrevin subfamily.
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. Isoform 7 and isoform 8 are only expressed in muscle.
Cellular localization
- Cytoplasm
- Synapse
- Cell membrane
- In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane.
Alternative names
DRP3, DTNA, Dystrobrevin alpha, DTN-A, Alpha-dystrobrevin, Dystrophin-related protein 3