SGCA
SGCA (Sarcoglycan Alpha) is a protein that in humans is encoded by the SGCA 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]
The SGCA gene provides instructions for making a protein called alpha-sarcoglycan. This protein is found in muscle cells, where it plays a crucial role in maintaining the stability and integrity of these cells. Alpha-sarcoglycan is part of a group of proteins that work together to strengthen muscle fibers and prevent them from being damaged during muscle contraction and relaxation.
Clinical significance[edit | edit source]
Mutations in the SGCA gene cause Limb-girdle muscular dystrophy type 2D (LGMD2D), a form of muscular dystrophy characterized by progressive weakness and wasting of the muscles of the hip and shoulder girdles.
See also[edit | edit source]
References[edit | edit source]
External links[edit | edit source]
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Contributors: Prab R. Tumpati, MD
