NCIt synonyms : ORF1; dJ71N10.1; Contains SH3 and WD40 Domains Gene; FLJ20069; JBTS3; Abelson Helper Integration Site 1 wt Allele; Abelson Helper Integration Site Gene; AHI-1;
NCIt 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.;
OMIM relation