Aliases for AHI1 Gene
External Ids for AHI1 Gene
Previous GeneCards Identifiers for AHI1 Gene
This gene is apparently required for both cerebellar and cortical development in humans. This gene mutations cause specific forms of Joubert syndrome-related disorders. Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Oct 2008]
GeneCards Summary for AHI1 Gene
AHI1 (Abelson Helper Integration Site 1) is a Protein Coding gene. Diseases associated with AHI1 include Joubert Syndrome 3 and Joubert Syndrome 1. Among its related pathways are Ectoderm Differentiation and Organelle biogenesis and maintenance. Gene Ontology (GO) annotations related to this gene include identical protein binding. An important paralog of this gene is MAPKBP1.
UniProtKB/Swiss-Prot Summary for AHI1 Gene
Involved in vesicle trafficking and required for ciliogenesis, formation of primary non-motile cilium, and recruitment of RAB8A to the basal body of primary cilium. Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. Involved in neuronal differentiation. As a positive modulator of classical Wnt signaling, may play a crucial role in ciliary signaling during cerebellum embryonic development (PubMed:21623382).