Karyopherin subunit alpha 7 (KPNA7)

Karyopherin subunit alpha 7 (KPNA7) is a nuclear transport receptor belonging to the importin alpha family, mediating the translocation of proteins containing nuclear localization signals (NLS) from the cytoplasm to the nucleus in complex with importin beta[1][4][5]. KPNA7 recognizes and binds NLS-containing cargo proteins, enabling their passage through the nuclear pore complex by active transport. It has a unique nuclear localization signal binding specificity compared to other family members and is highly conserved, showing highest expression in embryonic tissues and the nervous system[1][4]. Mutations in KPNA7 are associated with neurodevelopmental disorders such as epilepsy, developmental disability, and oocyte/zygote/embryo maturation arrest[1][3][4]. In some cancers, like pancreatic cancer, KPNA7 expression is increased. KPNA7 plays a critical role in neuronal development, mitotic spindle organization, and nuclear import processes, with pathogenic variants linked to distinct disease phenotypes[1][4][6]. Currently, there are no known specific pharmaceuticals targeting KPNA7, and no directly associated companion diagnostics, but its mutation status serves as a genetic biomarker in rare pediatric epilepsies[1].

Other names

Importin subunit alpha-8IPOA8Importin alpha 8OZEMA17Karyopherin alpha 7