Alphadystrobrevin1

Alpha-dystrobrevin-1 is a protein encoded by the DTNA gene in humans. It is a component of the dystrophin-glycoprotein complex (DGC), a multi-protein assembly that spans the muscle cell membrane and connects the cytoskeleton to the extracellular matrix. Through its position in the DGC, alpha-dystrobrevin-1 participates in anchoring the cytoskeleton to the sarcolemma and in intracellular signaling pathways that influence membrane stability during muscle contraction.

The DTNA gene produces several isoforms via alternative splicing and promoter usage, including alpha-dystrobrevin-1 and alpha-dystrobrevin-2. Alpha-dystrobrevin-1 is one of the larger cytoplasmic isoforms and interacts with core DGC members such as dystrophin and syntrophins, contributing to complex assembly and functional signaling at the sarcolemma.

Expression of alpha-dystrobrevin-1 occurs in skeletal muscle, cardiac muscle, and to varying extents in the brain, consistent with the broad distribution of the DGC components. In muscle, the protein helps maintain membrane integrity and modulate signaling processes that respond to mechanical stress and neuronal input.

Clinical significance remains an area of active research. Alterations in dystrobrevin family members have been studied in the context of muscular dystrophy and cardiomyopathy models, but the precise role of alpha-dystrobrevin-1 in human disease is not fully defined. Ongoing studies in humans and animal models aim to clarify how alpha-dystrobrevin-1 contributes to DGC function, muscle physiology, and related pathologies.