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The Abelson helper integration site 1 (AHI1) is a protein coding gene that is known for the critical role it plays in brain development.[1] Proper cerebellar and cortical development in the human brain depends heavily on AHI1. The AHI1 gene is prominently expressed in the embryonic hindbrain and forebrain.[1] AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce.[2] AHI1 has also been associated with schizophrenia and autism due to the role it plays in brain development.[3] An AHI1 heterozygous knockout mouse model was created to study the correlation between alterations in AHI1 expression and the pathogenesis of neuropsychiatric disorders. The core temperatures and corticosterone secretions of the heterozygous knockout mice after exposure to environmental and visceral stress exhibited extreme repression of autonomic nervous system and hypothalamic-pituitary-adrenal responses. The knockout mice demonstrated an increased resilience to different types of stress and these results lead to a correlation between emotional regulation and neuropsychiatric disorders.[3]

External IDsGeneCards: [1]
RefSeq (mRNA)



RefSeq (protein)



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Jouberin is a protein that in humans is encoded by the AHI1 gene.[4][5][6]


  1. 1.0 1.1 Dixon-Salazar, Tracy; Silhavy, Jennifer L.; Marsh, Sarah E.; Louie, Carrie M.; Scott, Lesley C.; Gururaj, Aithala; Al-Gazali, Lihadh; Al-Tawari, Asma A.; Kayserili, Hulya (2004-12-01). "Mutations in the AHI1 Gene, Encoding Jouberin, Cause Joubert Syndrome with Cortical Polymicrogyria". American Journal of Human Genetics. 75 (6): 979–987. doi:10.1086/425985. ISSN 0002-9297. PMC 1182159. PMID 15467982.
  2. Amann-Zalcenstein, Daniela; Avidan, Nili; Kanyas, Kyra; Ebstein, Richard P.; Kohn, Yoav; Hamdan, Adnan; Ben-Asher, Edna; Karni, Osnat; Mujaheed, Muhammed (2006-06-14). "AHI1, a pivotal neurodevelopmental gene, and C6orf217 are associated with susceptibility to schizophrenia". European Journal of Human Genetics. 14 (10): 1111–1119. doi:10.1038/sj.ejhg.5201675. ISSN 1018-4813. PMID 16773125.
  3. 3.0 3.1 Lotan, A; Lifschytz, T; Slonimsky, A; Broner, E C; Greenbaum, L; Abedat, S; Fellig, Y; Cohen, H; Lory, O. "Neural mechanisms underlying stress resilience in Ahi1 knockout mice: relevance to neuropsychiatric disorders". Molecular Psychiatry. 19 (2): 243–252. doi:10.1038/mp.2013.123. PMID 24042478.
  4. Lagier-Tourenne C, Boltshauser E, Breivik N, Gribaa M, Betard C, Barbot C, Koenig M (Apr 2004). "Homozygosity mapping of a third Joubert syndrome locus to 6q23". J Med Genet. 41 (4): 273–7. doi:10.1136/jmg.2003.014787. PMC 1735723. PMID 15060101.
  5. Utsch B, Sayer JA, Attanasio M, Pereira RR, Eccles M, Hennies HC, Otto EA, Hildebrandt F (Mar 2006). "Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome". Pediatr Nephrol. 21 (1): 32–5. doi:10.1007/s00467-005-2054-y. PMID 16240161.
  6. "Entrez Gene: AHI1 Abelson helper integration site 1".

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