Human DMD Knockout Cell Line-HEK293T

DMD, or the dystrophin gene, is one of the largest genes in humans. The DMD gene is located on the X chromosome, spans approximately 2.4 million DNA base pairs, and contains 79 exons. The gene encodes dystrophin, a protein that is essential for maintaining the integrity of muscle cell membranes. In skeletal and cardiac muscle, dystrophin is an important component of a large group of proteins called the dystrophin-associated protein complex. This complex strengthens muscle fibers and protects them from damage when muscles contract and relax. The dystrophin complex acts like an anchor, connecting the structural framework of each muscle cell (the cytoskeleton) to the lattice of proteins and other molecules outside the cell (the extracellular matrix). The dystrophin complex may also play a role in cell signaling by interacting with proteins that send and receive chemical signals. DMD gene mutations result in missing or dysfunctional dystrophin, which can lead to severe muscle-related diseases, most notably Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). Duchenne muscular dystrophy is a devastating X-linked recessive genetic disease that primarily affects boys and is characterized by rapid progression of muscle degeneration and weakness. The disease typically manifests in early childhood, leading to loss of the ability to walk by early adolescence and often leading to life-threatening cardiopulmonary complications by early adulthood. Becker muscular dystrophy, on the other hand, is less severe and has a later onset than Duchenne muscular dystrophy because a partially functional dystrophin protein is produced.