DTNA Antibody – Mouse Monoclonal

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. [provided by RefSeq, Jul 2008]

DTNA: May be involved in the formation and stability of synapses as well as being involved in the clustering of nicotinic acetylcholine receptors. Defects in DTNA are the cause of left ventricular non- compaction type 1 (LVNC1). Left ventricular non- compaction is due to an arrest of myocardial morphogenesis. The disorder is characterized by a hypertrophic left ventricle 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. Belongs to the dystrophin family. Dystrobrevin subfamily. 10 isoforms of the human protein are produced by alternative splicing.

Protein type: Motility/polarity/chemotaxis

Chromosomal Location of Human Ortholog: 18q12

Cellular Component: extrinsic to internal side of plasma membrane; protein complex; axon; cytoplasm; synapse; cell junction; sarcolemma

Molecular Function: protein binding; zinc ion binding; PDZ domain binding

Biological Process: synaptic transmission; striated muscle contraction; neuromuscular synaptic transmission; signal transduction

Disease: Left Ventricular Noncompaction 1