C201806Level 6
IPO8 wt Allele
**Semantic type:** Gene or Genome
**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.
**Synonyms:** - IMP8 - Importin 8 wt Allele - RAN Binding Protein 8 Gene - RANBP8 - VISS
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