Description
Key facts
Cell type:HEK-293T,
Species or organism:Human,
Tissue:Kidney,
Form:LiquidSee storage information,
Knockout validation:Sanger Sequencing,
Mutation description:Knockout achieved by using CRISPR/Cas9, 1 bp deletion in exon 8 and 8 bp deletion in exon 8
Product details:
We will provide viable cells that proliferate on revival.
This product is subject to limited use licenses from The Broad Institute and ERS Genomics Limited, and is developed with patented technology. For full details of the limited use licenses and relevant patents please refer to our
limited use license
patent pages
Properties and Storage Information:
Gene name-ATXN2L, 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.
ATXN2L also known as ataxin-2-like protein is a protein encoded by the ATXN2L gene. This protein has a mass of approximately 130 kilodaltons. It is widely expressed in various tissues including the brain and liver. Structurally ATXN2L contains multiple HEAT repeat sequences which facilitate its role in protein-protein interactions. The protein localizes primarily to the cytoplasm and is involved in the modulation of RNA metabolism.
Biological function summary
The ATXN2L protein interacts with other cellular components to influence mRNA stability and translation. It forms part of RNA granules structures that play a significant role in the post-transcriptional regulation of gene expression. Through these interactions ATXN2L can affect the cellular response to stress by managing the translation of stress response genes. Its function is critical in maintaining proper RNA homeostasis under various cellular conditions.
Pathways
Various interacting partners connect ATXN2L to fundamental biological processes. It is involved in the insulin signaling pathway which is important for energy balance and cellular growth. Additionally it participates in stress granule assembly involving other proteins such as G3BP1 and EIF2α. These pathways highlight the protein's importance in cellular stress responses and metabolism regulation.
Disruptions in ATXN2L function are associated with neurodegenerative conditions and metabolic syndrome. Mutations or altered expressions may link to amyotrophic lateral sclerosis (ALS) where it interacts with proteins like TDP-43 influencing disease progression. Furthermore its role in the insulin signaling pathway connects ATXN2L to type 2 diabetes implicating it in the development of insulin resistance.
