Description
Key facts
Cell type:HeLa,
Species or organism:Human,
Tissue:Cervix,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 5 bp deletion in exon 1 and Insertion of the selection cassette in exon 1,
Disease:Adenocarcinoma
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute, ERS Genomics Limited and Sigma-Aldrich Co. LLC, and is developed with patented technology. For full details of the licenses and patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-ARL13B, Gene editing type-Knockout, Gene editing method-CRISPR technology, Knockout validation-Sanger Sequencing, Shipped at conditions-Dry Ice, Appropriate short-term storage conditions--196°C, Appropriate long-term storage conditions--196°C
Supplementary Information:
This supplementary information is collated from multiple sources and compiled automatically.
ARL13B also known as ADP-ribosylation factor-like protein 13B is a small GTPase with a molecular mass of approximately 45 kDa. This protein predominantly localizes to the ciliary membrane of cells a specific structure important for cell signaling in eukaryotic organisms. Beyond its association with the cilia ARL13B expression is notable in complex neuronal tissues and renal epithelial cells indicating its diverse roles in various physiological processes.
Biological function summary
ARL13B plays an essential role in the formation and maintenance of primary cilia which are key to cell signaling and sensory processing. ARL13B functions as part of a multiprotein complex within the ciliary membrane essential for the localization and distribution of other ciliary proteins. Through its GTPase activity ARL13B regulates ciliary dynamics and signaling pathways that are fundamental to proper cellular function and development.
Pathways
ARL13B modulates the Sonic Hedgehog (Shh) and Wnt signaling pathways both critical in developmental processes and tissue homeostasis. ARL13B interacts with several proteins in these pathways to control signal transduction such as Gli proteins in the Shh pathway and various cytoplasmic and nuclear factors in the Wnt pathway. ARL13B's role as a signaling regulator highlights its importance in maintaining cellular communication and function.
Mutations or dysregulation of ARL13B are associated with Joubert syndrome and Meckel-Gruber syndrome both developmental disorders affecting the brain and other organs. These conditions arise partly from disrupted cilia function linking ARL13B directly to cilia-related syndromes. In Joubert syndrome ARL13B interacts with proteins such as Cep290 and IFT88 emphasizing its involvement in the pathology of ciliary dysfunctions and providing a focal point for understanding and potentially targeting these disorders.
