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Mouse Anti-AHI1 Recombinant Antibody (V2-12540) (CBMAB-1030-CN)

This product is a mouse antibody that recognizes AHI1 of human. The antibody B-2 can be used for immunoassay techniques such as: WB, IP, IF, ELISA.
See all AHI1 antibodies
Published Data

Summary

Host Animal
Mouse
Specificity
Human, Mouse, Rat
Clone
V2-12540
Antibody Isotype
IgG1, κ
Application
WB, IP, IF, ELISA

Basic Information

Immunogen
Amino acids 601-897 mapping within an internal region of AHI1 of human origin.
Host Species
Mouse
Specificity
Human, Mouse, Rat
Antibody Isotype
IgG1, κ
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.
ApplicationNote
WB1:100-1:1,000
IP1-2 µg per 100-500 µg of total protein (1 ml of cell lysate)
ELISA1:30-1:3,000
IF(ICC)1:50-1:500

Formulations & Storage [For reference only, actual COA shall prevail!]

Format
Liquid
Buffer
PBS, 0.1% gelatin
Preservative
< 0.1% sodium azide
Concentration
0.2 mg/ml
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freeze/thaw cycles.

Target

Full Name
Abelson Helper Integration Site 1
Introduction
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. This protein is 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.
Entrez Gene ID
UniProt ID
Alternative Names
ORF1; AHI-1; JBTS3; dJ71N10.1
Function
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.
Biological Process
Cellular protein localization
Central nervous system development
Ciliary basal body-plasma membrane docking
Cilium assembly
Cloaca development
Heart looping
Hindbrain development
Kupffer's vesicle development
Left/right axis specification
Morphogenesis of a polarized epithelium
Negative regulation of apoptotic process
Otic vesicle development
Photoreceptor cell outer segment organization
Positive regulation of polarized epithelial cell differentiation
Positive regulation of receptor internalization
Positive regulation of transcription by RNA polymerase II
Pronephric duct morphogenesis
Pronephric nephron tubule morphogenesis
Regulation of behavior
Retina layer formation
Specification of axis polarity
Transmembrane receptor protein tyrosine kinase signaling pathway
Vesicle-mediated transport
Cellular Location
Cilium basal body; Centriole; Adherens junction. In the retinal photoreceptor cell layer, localizes at the connecting cilium.
Involvement in disease
Joubert syndrome 3 (JBTS3): A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.

Hsiao, Y. C., Muñoz-Estrada, J., Tuz, K., & Ferland, R. J. (2021). The transition zone protein AHI1 regulates neuronal ciliary trafficking of MCHR1 and its downstream signaling pathway. Journal of Neuroscience, 41(17), 3932-3943.

Zhang, Q., Hu, Q., Wang, J., Miao, Z., Li, Z., Zhao, Y., ... & Xu, X. (2021). Stress modulates Ahi1-dependent nuclear localization of Ten-Eleven Translocation Protein 2. Human Molecular Genetics.

Sheu, J. J., Yang, L. Y., Sanotra, M. R., Wang, S. T., Lu, H. T., Kam, R. S. Y., ... & Lin, Y. F. (2020). Reduction of AHI1 in the serum of Taiwanese with probable Alzheimer’s disease. Clinical biochemistry, 76, 24-30.

Bourgeois, J. R. (2019). A Role for Abelson Helper Integration Site-1 (AHI1) in Murine Muscular Development and Function Independent of the Central Nervous System (Doctoral dissertation, Albany Medical College).

Ting, L. L., Lu, H. T., Yen, S. F., Ngo, T. H., Tu, F. Y., Tsai, I. S., ... & Lin, Y. F. (2019). Expression of AHI1 rescues amyloidogenic pathology in Alzheimer’s disease model cells. Molecular neurobiology, 56(11), 7572-7582.

Zhu, L., Chen, L., Yan, L., Perkins, B. D., Li, S., Li, B., ... & Li, X. J. (2019). Mutant Ahi1 affects retinal axon projection in zebrafish via toxic gain of function. Frontiers in cellular neuroscience, 13, 81.

Guo, D., Zhang, S., Sun, H., Xu, X., Hao, Z., Mu, C., ... & Ren, H. (2018). Tyrosine hydroxylase down-regulation after loss of Abelson helper integration site 1 (AHI1) promotes depression via the circadian clock pathway in mice. Journal of Biological Chemistry, 293(14), 5090-5101.

Kaskow, B. J., Buttrick, T. S., Klein, H. U., White, C., Bourgeois, J. R., Ferland, R. J., ... & Elyaman, W. (2018). MS AHI1 genetic risk promotes IFNγ+ CD4+ T cells. Neurology-Neuroimmunology Neuroinflammation, 5(1).

Wolf, G., Lifschytz, T., Ben-Ari, H., Tatarskyy, P., Merzel, T. K., Lotan, A., & Lerer, B. (2018). Effect of chronic unpredictable stress on mice with developmental under-expression of the Ahi1 gene: behavioral manifestations and neurobiological correlates. Translational psychiatry, 8(1), 1-11.

Bozzuto, G., & Molinari, A. (2017). The product of the human AHI-1 (Abelson helper integration site) gene: experimental in vitro data point to its involvement in tumor cell invasion. Annali dell'Istituto superiore di sanita, 53(1), 17-24.

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For research use only. Not intended for any clinical use.

Custom Antibody Labeling

We also offer labeled antibodies developed using our catalog antibody products and nonfluorescent conjugates (HRP, AP, Biotin, etc.) or fluorescent conjugates (Alexa Fluor, FITC, TRITC, Rhodamine, Texas Red, R-PE, APC, Qdot Probes, Pacific Dyes, etc.).

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