ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
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