Aliases for ENO3 Gene
External Ids for ENO3 Gene
Previous GeneCards Identifiers for ENO3 Gene
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]
GeneCards Summary for ENO3 Gene
ENO3 (Enolase 3 (Beta, Muscle)) is a Protein Coding gene. Diseases associated with ENO3 include glycogen storage disease due to muscle beta-enolase deficiency and glycogen storage disease xiii. Among its related pathways are Metabolism and Glycosaminoglycan metabolism. GO annotations related to this gene include protein homodimerization activity and magnesium ion binding. An important paralog of this gene is ENO2.
UniProtKB/Swiss-Prot for ENO3 Gene
Appears to have a function in striated muscle development and regeneration