KPNA3, karyopherin subunit alpha 3, 3839

N. diseases: 20; N. variants: 2
Disease: Neu-Laxova syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265218
Disease: Neu-Laxova syndrome
Neu-Laxova syndrome 		0.010 Biomarker disease BEFREE Since KPNA3 is known to function as an import protein and recognize nuclear localization signals (NLSs), this work unites ataxin-3 structure to the nuclear pore machinery and provides a link between karyopherins, NLS signals, and polyglutamine disease, as well as demonstrates that KPNA3 is a key player in the pathogenesis of SCA3. 29476013 2018