Entrez gene ID | | 2027 |
Official gene symbol | | ENO3 |
Full name | | enolase 3 (beta, muscle) |
Aliases | | ,GSD13,MSE, |
Gene summary | | 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] |
Location | | Chromosome: 17 Locus: 17pter-p11 |
Gene position | | 4854384 - 4860426 Map Viewer |
Gene orientation | | plus |
Gene size | | 6043 bp |
Gene sequence |
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OMIM ID | | 131370 |
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