NUP62 Chromosome 19
Nucleoporin 62
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What This Gene Does
The nuclear pore complex is a massive structure that extends across the nuclear envelope, forming a gateway that regulates the flow of macromolecules between the nucleus and the cytoplasm. Nucleoporins are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene is a member of the FG-repeat containing nucleoporins and is localized to the nuclear pore central plug. This protein associates with the importin alpha/beta complex which is involved in the import of proteins containing nuclear localization signals. Multiple transcript variants of this gene encode a single protein isoform. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
19q13.33
Ensembl
ENSG00000213024
Associated Conditions (2)
NUP62-related disorder
Infantile bilateral striatal necrosis
Key Variants
RS144277054
Conflicting classifications of pathogenicity
Health Risk
RS145084636
Conflicting classifications of pathogenicity
NUP62-related disorder, NUP62-related disorder
Health Risk
RS146715494
Conflicting classifications of pathogenicity
Health Risk
RS200398387
Conflicting classifications of pathogenicity
Health Risk
RS750595555
Conflicting classifications of pathogenicity
Health Risk
RS121917865
Pathogenic
Infantile bilateral striatal necrosis, Infantile bilateral striatal necrosis
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS144277054 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS145084636 | Health Risk | Conflicting classifications of pathogenicity | NUP62-related disorder, NUP62-related disorder |
| RS146715494 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS200398387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS750595555 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS121917865 | Health Risk | Pathogenic | Infantile bilateral striatal necrosis, Infantile bilateral striatal necrosis |