基因名:
ENO3
产品别名:
GSD13; MSE; ENO3; enolase 3; enolase 3; beta-enolase; 2-phospho-D-glycerate hydrolyase; enolase 3 (beta, muscle); muscle enriched enolase; muscle-specific enolase; skeletal muscle enolase; 烯醇化酶(ENO3); 骨骼肌烯醇化酶;
背景信息:
ENO3 is also known as beta enolase, one of the three enolase isoenzymes found in mammals. A switch from alpha enolase to beta enolase occurs in muscle tissue during development and ENO3, a homodimer, is found in skeletal muscle cells in the adult and appears to have a function in striated muscle development and regeneration. Mutations can result in decreased stability of the enzyme and be associated with a glycogen storage myopathy. This results in exercise-induced myalgias, generalized muscle weakness and fatigability.