KPNA3 Chromosome 13
Karyopherin subunit alpha 3
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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. [provided by RefSeq, Jan 2009]
Gene Info
Gene Group
"Armadillo repeat containing|Importins"
Locus Type
gene with protein product
Location
13q14.2
Ensembl
ENSG00000102753
Associated Conditions (2)
Spastic paraplegia 88
autosomal dominant
Key Variants
RS2541636062
Likely pathogenic
Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88
Health Risk
RS2541647390
Likely pathogenic
Health Risk
RS2541632016
Pathogenic
Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88
Health Risk
RS2541632753
Pathogenic
Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88
Health Risk
RS2541635988
Pathogenic
Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88
Health Risk
RS2541636017
Pathogenic
Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88
Health Risk
All Variants (6)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2541636062 | Health Risk | Likely pathogenic | Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88 |
| RS2541647390 | Health Risk | Likely pathogenic | — |
| RS2541632016 | Health Risk | Pathogenic | Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88 |
| RS2541632753 | Health Risk | Pathogenic | Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88 |
| RS2541635988 | Health Risk | Pathogenic | Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88 |
| RS2541636017 | Health Risk | Pathogenic | Spastic paraplegia 88, autosomal dominant, Spastic paraplegia 88 |