KPNA3
Chr 13ADkaryopherin subunit alpha 3
Also known as: IPOA4, SPG88, SRP1, SRP1gamma, SRP4, hSRP1
The protein functions as an adapter for nuclear protein import, binding to nuclear localization signals on substrate proteins and facilitating their transport into the nucleus through the nuclear pore complex. Mutations cause spastic paraplegia 88 with autosomal dominant inheritance, affecting the spinal cord and leading to progressive lower limb spasticity. The gene is highly constrained against loss-of-function variants (pLI 0.95, LOEUF 0.33), indicating that haploinsufficiency is likely not tolerated in the general population.
Primary Disease Associations & Inheritance
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
KPNA3 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools