SGCD
SGCD (Sarcoglycan Delta) is a protein that in humans is encoded by the SGCD gene. It is a component of the sarcoglycan complex, a subcomplex of the dystrophin-glycoprotein complex (DGC) which forms a link between the F-actin cytoskeleton and the extracellular matrix.
Function[edit | edit source]
SGCD is a critical component of the sarcoglycan complex. The sarcoglycan complex is a subcomplex of the DGC, which links the F-actin cytoskeleton to the extracellular matrix in muscle cells. This complex is critical for the stability of muscle cell membranes and plays a role in maintaining the integrity of the muscle fiber during contraction.
Clinical significance[edit | edit source]
Mutations in the SGCD gene are associated with limb-girdle muscular dystrophy type 2F. This is a form of muscular dystrophy that begins in the teenage years and causes progressive weakness and wasting of the muscles of the shoulder and hip girdle.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
