AHI1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AHI1 wild-type allele is located in the vicinity of 6q23.3 and is approximately 215 kb in length. This allele, which encodes jouberin protein, plays a role in ciliogenesis and vesicle trafficking. Mutation of the gene is associated with Joubert syndrome 3.

**Synonyms:** - AHI-1 - Abelson Helper Integration Site 1 wt Allele - Abelson Helper Integration Site Gene - Contains SH3 and WD40 Domains Gene - FLJ20069 - JBTS3 - ORF1 - dJ71N10.1