Sarcospan
Sarcospan (also known as SSPN) is a protein that in humans is encoded by the SSPN gene. It is a transmembrane protein that is a component of the dystrophin-glycoprotein complex, which is involved in the stability of muscle fiber membranes and the linking of the actin cytoskeleton to the extracellular matrix.
Function[edit | edit source]
Sarcospan is a 25 kDa transmembrane component of the dystrophin-glycoprotein complex, which is critical for the stability of muscle fiber membranes and the linking of the actin cytoskeleton to the extracellular matrix. The SSPN gene is thought to be involved in the pathogenesis of severe forms of Duchenne muscular dystrophy (DMD).
Clinical significance[edit | edit source]
Mutations in the SSPN gene have been associated with Duchenne muscular dystrophy (DMD), a severe form of muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss of ambulation and death. The role of SSPN in the pathogenesis of DMD is not fully understood, but it is thought to be involved in the stability of the muscle fiber membranes.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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