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GLE1 - GLE1 RNA export mediator
- Synonym(s) : hGLE1
- Previous symbols and names : GLE1 (yeast homolog)-like, RNA export mediator, GLE1 RNA export mediator (yeast), GLE1 RNA export mediator homolog (yeast), GLE1 RNA export mediator-like (yeast), GLE1, RNA export mediator, GLE1L, LCCS1, lethal congenital contracture syndrome 1
- Type : gene with protein product
- Chromosomal location : 9q34.11
- OMIM: 603371
- HGNC: 4315
- UniProtKB: Q53GS7
- Genatlas: GLE1
- Ensembl: ENSG00000119392
- IUPHAR-DB: -
- Reactome: Q53GS7
- LOVD: GLE1
Diseases list
- Disease-causing germline mutation(s) in Amyotrophic lateral sclerosis
ORPHA:803 
- Disease-causing germline mutation(s) in Arthrogryposis-anterior horn cell disease syndrome
ORPHA:53696 - Disease-causing germline mutation(s) in Lethal congenital contracture syndrome type 1
ORPHA:1486
: AssessedGene included in a panel of genes performed as part of a diagnostic test
Additional information
Health care resources for this gene
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