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The protein encoded by the AHI1 gene, jouberin, is involved in cerebral and cerebellar development. Mutations cause autosomal recessive Joubert syndrome type 3.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type RNA

Related Diseases:

Joubert syndrome 03



Ferland RJ et al. (2004) Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.

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Tuz K et al. (2013) The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions.

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Lancaster MA et al. (2011) Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome.

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Louie CM et al. (2010) AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.

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Ingason A et al. (2010) A large replication study and meta-analysis in European samples provides further support for association of AHI1 markers with schizophrenia.

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Lancaster MA et al. (2009) Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy.

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Hsiao YC et al. (2009) Ahi1, whose human ortholog is mutated in Joubert syndrome, is required for Rab8a localization, ciliogenesis and vesicle trafficking.

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Sheng G et al. (2008) Huntingtin-associated protein 1 interacts with Ahi1 to regulate cerebellar and brainstem development in mice.

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Jiang X et al. (2004) Deregulated expression in Ph+ human leukemias of AHI-1, a gene activated by insertional mutagenesis in mouse models of leukemia.

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Jiang X et al. (2002) Ahi-1, a novel gene encoding a modular protein with WD40-repeat and SH3 domains, is targeted by the Ahi-1 and Mis-2 provirus integrations.

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Elsayed SM et al. (2015) Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

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Valente EM et al. (2006) AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

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Utsch B et al. (2006) Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome.

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Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

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Dixon-Salazar T et al. (2004) Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.

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Najmabadi H et al. (2011) Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

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NCBI article

NCBI 54806 external link

OMIM.ORG article

Omim 608894 external link

Orphanet article

Orphanet ID 119549 external link

Wikipedia article

Wikipedia EN (AHI1) external link
Update: Aug. 14, 2020
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