AHI1 (Abelson Helper Integration Site 1 )

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AHI1 (Abelson Helper Integration Site 1) is a neurodevelopment gene that underwent accelerated evolution in the human lineage. Mutations in AHI1 cause Joubert syndrome, a disorder that causes congenital malformation of the brain accompanied by cognitive difficulties and autistic behaviors. Variants in AHI1 also are implicated in susceptibility for Autism and Schizophrenia. This data has led to the hypothesis that the human specific changes in AHI1 may be implicated in human cognitive changes.

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Gene symbols follow the HUGO Gene Nomenclature Committee standard.
Gene Symbol Type of Human-Specific Changes
AHI1 Accelerated Evolution


  1. The influence of AHI1 variants on the diagnosis and treatment outcome in schizophrenia., Porcelli, Stefano, Pae Chi-Un, Han Changsu, Lee Soo-Jung, Patkar Ashwin A., Masand Prakash S., Balzarro Beatrice, Alberti Siegfried, De Ronchi Diana, and Serretti Alessandro , Int J Mol Sci, 2015, Volume 16, Issue 2, p.2517-29, (2015)
  2. Association of common variants in the Joubert syndrome gene (AHI1) with autism., Retuerto, Ana I. Alvarez, Cantor Rita M., Gleeson Joseph G., Ustaszewska Anna, Schackwitz Wendy S., Pennacchio Len A., and Geschwind Daniel H. , Hum Mol Genet, 2008 Dec 15, Volume 17, Issue 24, p.3887-96, (2008)
  3. AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia., Amann-Zalcenstein, Daniela, Avidan Nili, Kanyas Kyra, Ebstein Richard P., Kohn Yoav, Hamdan Adnan, Ben-Asher Edna, Karni Osnat, Mujaheed Muhammed, Segman Ronnen H., et al. , Eur J Hum Genet, 2006 Oct, Volume 14, Issue 10, p.1111-9, (2006)
  4. Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome., Ferland, Russell J., Eyaid Wafaa, Collura Randall V., Tully Laura D., R Hill Sean, Al-Nouri Doha, Al-Rumayyan Ahmed, Topcu Meral, Gascon Generoso, Bodell Adria, et al. , Nat Genet, 2004 Sep, Volume 36, Issue 9, p.1008-13, (2004)