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- Table of Contents
Facts about Jouberin.
Involved in neuronal differentiation (PubMed:23658157). As a positive modulator of classical Wnt signaling, may play an essential role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).
Mouse | |
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Gene Name: | Ahi1 |
Uniprot: | Q8K3E5 |
Entrez: | 52906 |
Belongs to: |
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No superfamily |
Abelson helper integration site 1 protein homolog; Abelson helper integration site 1; Abelson helper integration site; AHI-1; contatins SH3 and WD40 domains; dJ71N10.1; DKFZp686J1653; FLJ14023; FLJ20069; JBTS3; jouberin; ORF1
Mass (kDA):
119.65 kDA
Mouse | |
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Location: | 10 A3|10 9.75 cM |
Sequence: | 10; |
Highly expressed in the brain and testis. Weakly expressed in the liver. Strongly expressed during periods of both cortical and cerebellar development.
PMID: 12186888 by Jiang X., et al. 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.
PMID: 15467982 by Dixon-Salazar T., et al. Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.