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Mouse Anti-ARL13B Recombinant Antibody (6F11) (CBMAB-A0478-LY)

The product is antibody recognizes ARL13B. The antibody 6F11 immunoassay techniques such as: WB, ELISA.
See all ARL13B antibodies

Summary

Host Animal
Mouse
Specificity
Human
Clone
6F11
Antibody Isotype
IgG2a, κ
Application
WB, ELISA

Basic Information

Immunogen
ARL13B (NP_878899.1, 329 a.a. ~ 428 a.a) partial recombinant protein with GST tag.
Specificity
Human
Antibody Isotype
IgG2a, κ
Clonality
Monoclonal
Application Notes
The COA includes recommended starting dilutions, optimal dilutions should be determined by the end user.

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

Format
Liquid
Buffer
PBS, pH 7.4
Preservative
None
Concentration
Batch dependent
Purity
> 95% Purity determined by SDS-PAGE.
Storage
Store at +4°C short term (1-2 weeks). Aliquot and store at -20°C long term. Avoid repeated freezethaw cycles.

Target

Full Name
ADP-ribosylation factor-like 13B
Entrez Gene ID
200894
UniProt ID
Q3SXY8
Alternative Names
ARL2L1; DKFZp686E2075; DKFZp686L2472; DKFZp686M2074; DKFZp761H079; JBTS8; MGC120611; MGC120612
Function
Cilium-specific protein required to control the microtubule-based, ciliary axoneme structure. May act by maintaining the association between IFT subcomplexes A and B. Binds GTP but is not able to hydrolyze it; the GTPase activity remains unclear. Required to pattern the neural tube. Involved in cerebral cortex development: required for the initial formation of a polarized radial glial scaffold, the first step in the construction of the cerebral cortex, by regulating ciliary signaling. Regulates the migration and placement of postmitotic interneurons in the developing cerebral cortex. May regulate endocytic recycling traffic; however, additional evidence is required to confirm these data.
Biological Process
Aggrephagy Source: Reactome
Cilium assembly Source: UniProtKB
Formation of radial glial scaffolds Source: UniProtKB
Interneuron migration from the subpallium to the cortex Source: UniProtKB
Neural tube patterning Source: UniProtKB
Non-motile cilium assembly Source: UniProtKB
Receptor localization to non-motile cilium Source: GO_Central
Smoothened signaling pathway Source: UniProtKB
Cellular Location
Cilium membrane; Cilium. Associates to the cilium membrane via palmitoylation. Localizes to proximal ciliary membranes, to an inversin-like subciliary membrane compartment, excluding the transition zone.
Involvement in disease
Joubert syndrome 8 (JBTS8): 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.
PTM
Sumoylation is required for PKD2 entry into cilium.

Han, S., Miyoshi, K., Shikada, S., Amano, G., Wang, Y., Yoshimura, T., & Katayama, T. (2019). TULP3 is required for localization of membrane-associated proteins ARL13B and INPP5E to primary cilia. Biochemical and biophysical research communications, 509(1), 227-234.

Dilan, T., & Ramamurthy, V. (2019). The dynamic and complex role of the Joubert Syndrome-associated ciliary protein, ADP-ribosylation factor-like GTPase 13B (ARL13B) in photoreceptor development and maintenance. Retinal Degenerative Diseases, 501-505.

Bay, S. N., Long, A. B., & Caspary, T. (2018). Disruption of the ciliary GTPase Arl13b suppresses Sonic hedgehog overactivation and inhibits medulloblastoma formation. Proceedings of the National Academy of Sciences, 115(7), 1570-1575.

Rafiullah, R., Long, A. B., Ivanova, A. A., Ali, H., Berkel, S., Mustafa, G., ... & Rappold, G. A. (2017). A novel homozygous ARL13B variant in patients with Joubert syndrome impairs its guanine nucleotide-exchange factor activity. European Journal of Human Genetics, 25(12), 1324-1334.

Roy, K., Jerman, S., Jozsef, L., McNamara, T., Onyekaba, G., Sun, Z., & Marin, E. P. (2017). Palmitoylation of the ciliary GTPase ARL13b is necessary for its stability and its role in cilia formation. Journal of Biological Chemistry, 292(43), 17703-17717.

Hanke-Gogokhia, C., Wu, Z., Sharif, A., Yazigi, H., Frederick, J. M., & Baehr, W. (2017). The guanine nucleotide exchange factor Arf-like protein 13b is essential for assembly of the mouse photoreceptor transition zone and outer segment. Journal of Biological Chemistry, 292(52), 21442-21456.

Ivanova, A. A., Caspary, T., Seyfried, N. T., Duong, D. M., West, A. B., Liu, Z., & Kahn, R. A. (2017). Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF). Journal of Biological Chemistry, 292(26), 11091-11108.

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

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