GLE1 Chromosome 9
GLE1 RNA export mediator
Upload your DNA to see your personal genotypes for variants in GLE1.
What This Gene Does
This gene encodes a predicted 75-kDa polypeptide with high sequence and structure homology to yeast Gle1p, which is nuclear protein with a leucine-rich nuclear export sequence essential for poly(A)+RNA export. Inhibition of human GLE1L by microinjection of antibodies against GLE1L in HeLa cells resulted in inhibition of poly(A)+RNA export. Immunoflourescence studies show that GLE1L is localized at the nuclear pore complexes. This localization suggests that GLE1L may act at a terminal step in the export of mature RNA messages to the cytoplasm. Two alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
9q34.11
Ensembl
ENSG00000119392
Associated Conditions (6)
GLE1-related disorder
Lethal arthrogryposis-anterior horn cell disease syndrome
Lethal congenital contracture syndrome 1
Lethal congenital contractural syndrome Finnish type
Inborn genetic diseases
Malignant tumor of esophagus
Key Variants
RS1221042697
Conflicting classifications of pathogenicity
GLE1-related disorder, GLE1-related disorder
Health Risk
RS141709685
Conflicting classifications of pathogenicity
Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal congenital contractural syndrome Finnish type
Health Risk
RS146800850
Conflicting classifications of pathogenicity
Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
Health Risk
RS150246404
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome, GLE1-related disorder
Health Risk
RS1847831145
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
Health Risk
RS201830047
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS369804957
Conflicting classifications of pathogenicity
Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1
Health Risk
RS372008961
Conflicting classifications of pathogenicity
Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
Health Risk
RS372835667
Conflicting classifications of pathogenicity
Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Malignant tumor of esophagus
Health Risk
RS530867627
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS549769200
Conflicting classifications of pathogenicity
Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
Health Risk
RS757998854
Conflicting classifications of pathogenicity
Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
Health Risk
All Variants (131)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2540601547 | Health Risk | Pathogenic | — |
| RS2540602131 | Health Risk | Pathogenic | — |
| RS2540602169 | Health Risk | Pathogenic | — |
| RS2540608553 | Health Risk | Pathogenic | — |
| RS2540608655 | Health Risk | Pathogenic | — |
| RS2540627297 | Health Risk | Pathogenic | — |
| RS2540627387 | Health Risk | Pathogenic | — |
| RS2540642539 | Health Risk | Pathogenic | — |
| RS2540642684 | Health Risk | Pathogenic | — |
| RS2540647541 | Health Risk | Pathogenic | Lethal congenital contractural syndrome Finnish type, Lethal congenital contractural syndrome Finnish type |
| RS2540647761 | Health Risk | Pathogenic | — |
| RS2540650379 | Health Risk | Pathogenic | — |
| RS386833693 | Health Risk | Pathogenic | Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contractural syndrome Finnish type |
| RS747231463 | Health Risk | Pathogenic | — |
| RS748684395 | Health Risk | Pathogenic | — |
| RS752792918 | Health Risk | Pathogenic | — |
| RS754578389 | Health Risk | Pathogenic | — |
| RS755775223 | Health Risk | Pathogenic | — |
| RS762813218 | Health Risk | Pathogenic | — |
| RS772214214 | Health Risk | Pathogenic | — |
| RS774933514 | Health Risk | Pathogenic | — |
| RS780020849 | Health Risk | Pathogenic | — |
| RS973138093 | Health Risk | Pathogenic | — |
| RS1026034826 | Health Risk | Pathogenic/Likely pathogenic | Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome |
| RS121434407 | Health Risk | Pathogenic/Likely pathogenic | Lethal congenital contracture syndrome 1, Inborn genetic diseases, Lethal arthrogryposis-anterior horn cell disease syndrome |
| RS1564145502 | Health Risk | Pathogenic/Likely pathogenic | Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1 |
| RS1847710909 | Health Risk | Pathogenic/Likely pathogenic | GLE1-related disorder, GLE1-related disorder |
| RS2540592843 | Health Risk | Pathogenic/Likely pathogenic | Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome |
| RS374673335 | Health Risk | Pathogenic/Likely pathogenic | Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1 |
| RS772765696 | Health Risk | Pathogenic/Likely pathogenic | Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome |
| RS775658412 | Health Risk | Pathogenic/Likely pathogenic | Lethal arthrogryposis-anterior horn cell disease syndrome, Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome |