SGCA(redirected from OTTHUMP00000221052)
SGCAA gene on chromosome 17q21 that encodes a component of the dystrophin-glycoprotein complex, which is thought to be restricted to striated muscle. It stabilises muscle cell membranes and links the actin cytoskeleton to the extracellular matrix.
SGCA mutations result in type 2D autosomal recessive limb-girdle muscular dystrophy.
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