KPNA7 Chromosome 7

Karyopherin subunit alpha 7
10 variants 10 Health Risk

Upload your DNA to see your personal genotypes for variants in KPNA7.

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
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
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