Human Gene Set: HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN
Standard name
HP_ABNORMAL_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN
Systematic name
M38323
Brief description
Abnormal muscle fiber alpha dystroglycan
Full description or abstract
A deviation from normal of muscle alpha-dystroglcan expression. Alpha-dystroglycan is a heavily glycosylated peripheral-membrane component of the dystrophin-associated glycoprotein complex (DAPC), which, in addition to laminin alpha2, binds perlecan and agrin in the extracellular matrix, whereas beta-dystroglycan, derived from the same gene, is a transmembrane protein that links to dystrophin intracellularly. []
