Enolase-3 (ENO3) Human Recombinant Protein

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]

ENO3: Appears to have a function in striated muscle development and regeneration. Defects in ENO3 are the cause of glycogen storage disease type 13 (GSD13). A metabolic disorder that results in exercise-induced myalgias, generalized muscle weakness and fatigability. It is characterized by increased serum creatine kinase and decreased enolase 3 activity. Dramatically reduced protein levels with focal sarcoplasmic accumulation of glycogen- beta particles are detected on ultrastructural analysis. Belongs to the enolase family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Carbohydrate Metabolism - glycolysis and gluconeogenesis; Lyase; EC 4.2.1.11

Chromosomal Location of Human Ortholog: 17p13.2

Cellular Component: extracellular space; phosphopyruvate hydratase complex; cytoplasm; plasma membrane; cytosol

Molecular Function: protein homodimerization activity; protein heterodimerization activity; magnesium ion binding; phosphopyruvate hydratase activity

Biological Process: response to drug; glycolysis; carbohydrate metabolic process; glucose metabolic process; skeletal muscle regeneration; pathogenesis; aging; gluconeogenesis

Disease: Glycogen Storage Disease Xiii