Description
Product Characteristics:
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.
Subcellular location: Cytoplasm
Synonyms: MSE, GSD13, Beta-enolase, 2-phospho-D-glycerate hydro-lyase, Enolase 3, Muscle-specific enolase, Skeletal muscle enolase, ENO3
Target Information: This gene encodes one of the three enolase isoenzymes found in mammals. This isoenzyme is found in skeletal muscle cells in the adult where it may play a role in muscle development and regeneration. A switch from alpha enolase to beta enolase occurs in muscle tissue during development in rodents. Mutations in this gene have be associated glycogen storage disease. Alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Jul 2010]