NCIt synonyms : IMP8; VISS; RAN Binding Protein 8 Gene; Importin 8 wt Allele; RANBP8;
NCIt definition : Human IPO8 wild-type allele is located in the vicinity of 12p11.21 and is approximately
67 kb in length. This allele, which encodes importin-8 protein, is involved in nuclear
cargo import. Mutation of the gene is associated with vascular aneurysm, immune dysregulation,
skeletal anomalies, and skin and joint laxity (VISS) syndrome.;