glycogen storage disease type-XIII (muscle-specific enolase-beta deficiency)

Pathology: - glycogen storage myopathy - diminished protein levels - focal sarcoplasmic accumulation of glycogen-beta particles Genetics: - associated with defects in ENO3 Clinical manifestations: - exercise-induced myalgias - generalized muscle weakness & fatigability

Properties

DEFICIENT-PROTEIN: enolase-3 CONFIGURATION: dimer COMPARTMENT: cytoplasm MOTIF: binding site SITE: 158-158 FOR-BINDING-OF: Substrate binding site SITE: 167-167 FOR-BINDING-OF: Substrate glutamate residue {E210} Mg+2-binding site SITE: 245-245 Mg+2-binding site SITE: 293-293 MOTIF: binding site SITE: 293-293 FOR-BINDING-OF: Substrate Mg+2-binding site SITE: 318-318 MOTIF: binding site SITE: 318-318 FOR-BINDING-OF: Substrate lysine residue {K343} Substrate binding {370-373} binding site SITE: 394-394 FOR-BINDING-OF: Substrate

Database Correlations

OMIM 131370 MORBIDMAP 131370

References

OMIM :accession 131370