rs200608211
This variant is located in the ENO3 gene.
▶ClinVar annotation
Glycogen storage disease due to muscle beta-enolase deficiency
View on ClinVar →About ENO3
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]
View all ENO3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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