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Gene : ENO3 Homo sapiens

Name  ? enolase 3 Cytological Location  17p13.2
Brief Description  enolase 3
Description  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]
  • synonyms:
  • muscle enriched enolase,
  • beta-enolase,
  • GSD13,
  • MSE,
  • enolase 3 (beta, muscle),
  • ENO3,
  • uc002gac.5,
  • X16504,
  • OTTHUMG00000099394,
  • HGNC:3354,
  • enolase 3, (beta, muscle),
  • NM_001193503
  • identifiers:
  • 2027,
  • ENSG00000108515,
  • ENO3

Genome feature

Region: gene ? Length: 7950  
Location: 17:4949182-4957131 Cyto location: 17p13.2


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Function

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Genomics

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Proteins

Gene --> Proteins.

SNPs

Gene Report --> GWAS hit

Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

Homology

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Expression

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Gene Ontology

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Other

3753 SN Ps

5 Cross References

20 Data Sets

10 Homologues

0 Located Features

97 Rna Seq Results