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Jouberin

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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.

Below are the list of possible Jouberin products. If you cannot find the target and/or product is not available in our catalog, please click here to contact us and request the product or submit your request for custom elisa kit production, custom recombinant protein production or custom antibody production. Custom ELISA Kits, Recombinant Proteins and Antibodies can be designed, manufactured and produced according to the researcher's specifications.
 

Jouberin

 Jouberin ELISA Kit
 Jouberin Recombinant
 Jouberin Antibody
Also known as Jouberin (Abelson helper integration site 1 protein homolog) (AHI-1).
AHI1: is up-regulated at all stages of chronic myeloid leukemia (CML). Down-regulated during early differentiation of normal hematopoietic cells. The AHI-1 gene is activated by insertional mutagenesis in mouse models of leukemia. Important for cerebellar and cortical development, and axonal decussation. Mutation
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s of the AHI-1 gene are associated with Joubert syndrome. Highly expressed in the most primitive normal hematopoietic cells. Expressed in brain, particularly in neurons that give rise to the crossing axons of the corticospinal tract and superior cerebellar peduncles. Genetic analysis indicates that it is important in the development of human-specific motor behaviors. Three alternatively spliced isoforms have been described.

Protein type: Adaptor/scaffold

Chromosomal Location of Human Ortholog: 6q23.3

Cellular Component: adherens junction; centriole; centrosome; cilium; cytosol; intercellular junction

Molecular Function: identical protein binding; protein binding

Biological Process: central nervous system development; heart looping; hindbrain development; morphogenesis of a polarized epithelium; negative regulation of apoptosis; positive regulation of polarized epithelial cell differentiation; positive regulation of receptor internalization; positive regulation of transcription from RNA polymerase II promoter; regulation of behavior; specification of axis polarity; transmembrane receptor protein tyrosine kinase signaling pathway; vesicle-mediated transport

Disease: Joubert Syndrome 3
 AHI1 ELISA Kit
 AHI1 Recombinant
 AHI1 Antibody
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