NUP88 Chromosome 17
Nucleoporin 88
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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, a family of 50 to 100 proteins, are the main components of the nuclear pore complex in eukaryotic cells. The protein encoded by this gene belongs to the nucleoporin family and is associated with the oncogenic nucleoporin CAN/Nup214 in a dynamic subcomplex. This protein is also overexpressed in a large number of malignant neoplasms and precancerous dysplasias. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2016]
Gene Info
Gene Group
Nucleoporins
Locus Type
gene with protein product
Location
17p13.2
Ensembl
ENSG00000108559
Associated Conditions (1)
Fetal akinesia deformation sequence 4
Key Variants
RS1567568217
Pathogenic
Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4
Health Risk
RS774070092
Pathogenic
Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4
Health Risk
RS776532930
Pathogenic
Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1567568217 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4 |
| RS774070092 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4 |
| RS776532930 | Health Risk | Pathogenic | Fetal akinesia deformation sequence 4, Fetal akinesia deformation sequence 4 |