WB: 1:500-1:1000
NCBI and Uniprot Product Information
NCBI Description
This gene encodes a member of the ADP-ribosylation factor-like family. The encoded protein is a small GTPase that contains both N-terminal and C-terminal guanine nucleotide-binding motifs. This protein is localized in the cilia and plays a role in cilia formation and in maintenance of cilia. Mutations in this gene are the cause of Joubert syndrome 8. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]
Uniprot Description
ARL13B: Defects in ARL13B are the cause of Joubert syndrome type 8 (JBTS8). JBTS is an autosomal recessive disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermis 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. Belongs to the small GTPase superfamily. Arf family. 2 isoforms of the human protein are produced by alternative splicing.
Protein type: G protein, monomeric; G protein, monomeric, ARF
Chromosomal Location of Human Ortholog: 3q11.1
Cellular Component: intracellular; cilium
Molecular Function: protein binding; GTP binding
Biological Process: formation of radial glial scaffolds; smoothened signaling pathway; dorsal/ventral pattern formation; sensory cilium biogenesis; interneuron migration from the subpallium to the cortex; small GTPase mediated signal transduction; organelle organization and biogenesis; neural tube patterning; cilium biogenesis; heart looping
Disease: Joubert Syndrome 8
Research Articles on ARL13B
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Product Notes
The ARL13B arl13b (Catalog #AAA9405292) is an Antibody produced from Rabbit and is intended for research purposes only. The product is available for immediate purchase. The ARL13B Antibody reacts with Human, Mouse, Rat and may cross-react with other species as described in the data sheet. AAA Biotech's ARL13B can be used in a range of immunoassay formats including, but not limited to, ELISA (EIA), Western Blot (WB). ELISA: 1:20000-1:80000 WB: 1:500-1:1000. Researchers should empirically determine the suitability of the ARL13B arl13b for an application not listed in the data sheet. Researchers commonly develop new applications and it is an integral, important part of the investigative research process. It is sometimes possible for the material contained within the vial of "ARL13B, Polyclonal Antibody" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
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