AAM94177.1
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
120,853 Da
NCBI Official Full Name
Ahi-1 isoform I, partial
NCBI Official Synonym Full Names
Abelson helper integration site 1
NCBI Protein Information
jouberin
UniProt Protein Name
Jouberin
UniProt Synonym Protein Names
Abelson helper integration site 1 protein homolog; AHI-1
UniProt Synonym Gene Names
NCBI Summary for Ahi-1
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]
UniProt Comments for Ahi-1
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).
Product References and Citations for anti-Ahi-1 antibody
1. Zhou LL-AHI-1 interacts with BCR-ABL and modulates BCR-ABL transforming activity and imatinib response of CML stem/progenitor cells.
Research Articles on Ahi-1
Precautions
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Products associated with anti-Ahi-1 antibody
Pathways associated with anti-Ahi-1 antibody
Diseases associated with anti-Ahi-1 antibody
Organs/Tissues associated with anti-Ahi-1 antibody
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