KPNA7 Chromosome 7
Karyopherin subunit alpha 7
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What This Gene Does
The transport of molecules between the nucleus and the cytoplasm in eukaryotic cells is mediated by the nuclear pore complex (NPC), which consists of 60-100 proteins. Small molecules (up to 70 kD) can pass through the nuclear pore by nonselective diffusion while larger molecules are transported by an active process. The protein encoded by this gene belongs to the importin alpha family, and is involved in nuclear protein import, but exhibits different nuclear localization signal binding specificity compared to other members of the family. A pseudogene of this gene has been defined on chromosome 5. [provided by RefSeq, Jul 2016]
Gene Info
Gene Group
"Armadillo repeat containing|Importins"
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000185467
Associated Conditions (3)
KPNA7-related disorder
Mild intellectual disability
Oocyte/zygote/embryo maturation arrest 17
Key Variants
RS138176387
Conflicting classifications of pathogenicity
Health Risk
RS191355534
Conflicting classifications of pathogenicity
KPNA7-related disorder, KPNA7-related disorder
Health Risk
RS200524486
Conflicting classifications of pathogenicity
Health Risk
RS371140473
Conflicting classifications of pathogenicity
Health Risk
RS562883044
Conflicting classifications of pathogenicity
Health Risk
RS587777538
Conflicting classifications of pathogenicity
Health Risk
RS752758269
Conflicting classifications of pathogenicity
Health Risk
RS760378316
Conflicting classifications of pathogenicity
Mild intellectual disability, Mild intellectual disability
Health Risk
RS1168254533
Pathogenic
Oocyte/zygote/embryo maturation arrest 17, Oocyte/zygote/embryo maturation arrest 17
Health Risk
RS1241379065
Pathogenic
Oocyte/zygote/embryo maturation arrest 17, Oocyte/zygote/embryo maturation arrest 17
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS138176387 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS191355534 | Health Risk | Conflicting classifications of pathogenicity | KPNA7-related disorder, KPNA7-related disorder |
| RS200524486 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS371140473 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS562883044 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS587777538 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS752758269 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS760378316 | Health Risk | Conflicting classifications of pathogenicity | Mild intellectual disability, Mild intellectual disability |
| RS1168254533 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 17, Oocyte/zygote/embryo maturation arrest 17 |
| RS1241379065 | Health Risk | Pathogenic | Oocyte/zygote/embryo maturation arrest 17, Oocyte/zygote/embryo maturation arrest 17 |