DTNA

The protein encoded by this gene belongs to the dystrobrevin subfamily of the dystrophin family. This protein is a component of the dystrophin-associated protein complex (DPC), which consists of dystrophin and several integral and peripheral membrane proteins, including dystroglycans, sarcoglycans, syntrophins and alpha- and beta-dystrobrevin. The DPC localizes to the sarcolemma and its disruption is associated with various forms of muscular dystrophy. Mutations in this gene are associated with left ventricular noncompaction with congenital heart defects. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.

Full Name

Dystrobrevin Alpha

Research Area

May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors.

Biological Process

Chemical synaptic transmission Source: ProtInc
Neuromuscular synaptic transmission Source: ProtInc
Signal transduction Source: ProtInc
Striated muscle contraction Source: ProtInc
Synaptic signaling Source: GO_Central

Cellular Location

Cell membrane; Cytoplasm; Synapse. In peripheral nerves, colocalizes with MAGEE1 in the Schwann cell membrane.

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.

PTM

Phosphorylation of DTN-1 on tyrosine kinase substrate domain present in the C-terminus.