Jouberin
The protein encoded by the AHI1 gene, jouberin, is involved in cerebral and cerebellar development. Mutations cause autosomal recessive Joubert syndrome type 3.
Genetests:
Related Diseases:
References:
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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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14. |
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
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OMIM.ORG article
Omim 608894
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Orphanet article
Orphanet ID 119549
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Wikipedia article
Wikipedia EN (AHI1)
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Update: Aug. 14, 2020