glycogen storage disease type-XV

Pathology: - glycogen depletion in skeletal muscle - accumulation of abnormal storage material in the heart - skeletal muscle shows a marked predominance of slow-twitch, oxidative muscle fibers & mitochondrial proliferation Genetics: - associated with defects in GYG1 Clinical manifestations: - generalized muscle weakness & fatigability - cardiac arrhythmiass

Properties

DEFICIENT-PROTEIN: glycogenin-1 MOTIF: acetylation site SITE: N-TERMINUS EFFECTOR-BOUND: acetyl lysine residue {K86} manganese [Mn]-binding site SITE: 102-102 manganese [Mn]-binding site SITE: 104-104 aspartate residue {160} aspartate residue {163} active site phosphorylation site manganese [Mn]-binding site SITE: 212-212 GYS1 interaction {301-333}

References

OMIM :accession 613507