ENO3 Chromosome 17
Enolase 3
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What This Gene Does
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]
Gene Info
Gene Group
Enolases
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000108515
Associated Conditions (1)
Glycogen storage disease due to muscle beta-enolase deficiency
Key Variants
RS121918403
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS142390642
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS145859308
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS147327991
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS201872558
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS527864393
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS757606682
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS759839410
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS778664924
Conflicting classifications of pathogenicity
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS2507721405
Likely pathogenic
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
RS760194274
Likely pathogenic
Health Risk
RS1298530904
Pathogenic
Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency
Health Risk
All Variants (13)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS121918403 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS142390642 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS145859308 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS147327991 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS201872558 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS527864393 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS757606682 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS759839410 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS778664924 | Health Risk | Conflicting classifications of pathogenicity | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS2507721405 | Health Risk | Likely pathogenic | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS760194274 | Health Risk | Likely pathogenic | — |
| RS1298530904 | Health Risk | Pathogenic | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |
| RS2151144481 | Health Risk | Pathogenic | Glycogen storage disease due to muscle beta-enolase deficiency, Glycogen storage disease due to muscle beta-enolase deficiency |