Human Gene Set: HP_REDUCED_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN
Standard name
HP_REDUCED_MUSCLE_FIBER_ALPHA_DYSTROGLYCAN
Systematic name
M48848
Brief description
Reduced muscle fiber alpha dystroglycan
Full description or abstract
Immunohistochemistry reveals reduced alpha dystroglycan protein in the muscle biopsy. 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. [HPO_CONTRIBUTOR:UToronto_htrang, https://orcid.org/0000-0002-0736-9199, PMID:11592034]
