ADD3
Description
The ADD3 gene, also known as alpha-4 dystrophin, encodes a protein that plays a crucial role in maintaining the structural integrity of muscle fibers. It is a member of the dystrophin family, which are large proteins responsible for linking the cytoskeleton of muscle cells to the extracellular matrix. ADD3 is specifically expressed in skeletal muscle, where it interacts with other proteins to form a complex that strengthens the muscle membrane and prevents damage during muscle contraction. Mutations in the ADD3 gene can lead to various muscular dystrophies, characterized by progressive muscle weakness and degeneration.
Associated Diseases
- Limb-girdle muscular dystrophy type 2L (LGMD2L)
- Distal muscular dystrophy type 1A (DMD1A)
- Myotonic dystrophy type 1 (DM1)
- Facioscapulohumeral muscular dystrophy (FSHD)
Did you know?
ADD3 is the shortest member of the dystrophin gene family, with only 20 exons compared to the 79 exons of the DMD gene.
