Recombinant Dystrophin Protein Standard (His tag)

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Dystrophin also known as the DMD protein plays a mechanical role in muscle fibers by connecting the cytoskeleton of a muscle fiber to the surrounding extracellular matrix through the cell membrane. This structural connection helps reinforce the muscle fiber during contraction and mechanical stress. The protein has a molecular weight of approximately 427 kDa. It is expressed mainly in skeletal and cardiac muscles where it is important for maintaining muscle integrity.

Biological function summary

Dystrophin acts as an important component of the dystrophin-glycoprotein complex. This complex stabilizes the muscle cell membrane by linking actin filaments within the cytoskeleton to proteins in the extracellular matrix. The absence or malfunctioning of dystrophin disrupts this connection leading to increased susceptibility to damage during muscle contraction. This is especially evident in tissues where the protein is abundantly present.

Pathways

Dystrophin is integral to the structural integrity pathway in muscle cells. It works alongside proteins like dystroglycan and sarcoglycan forming a multiprotein complex that ensures cell membrane stability during muscle contractions. The proper functioning of the dystrophin complex is also linked to calcium signaling pathways highlighting its role in cellular signaling mechanisms.

Associated diseases and disorders

Dystrophin's malfunction is directly associated with Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD). Mutations in the DMD gene which encodes the dystrophin protein result in the absence or reduced functionality of the protein leading to progressive muscle degeneration observed in DMD and BMD. These disorders frequently involve the protein utrophin which sometimes compensates for the lack of functional dystrophin albeit insufficiently to alleviate the symptoms.