Anti-AUTS2 antibody [CL7067]

Supplementary info

Activity summary

AUTS2 also known as the Autism Susceptibility Gene 2 is a protein encoded by the AUTS2 gene and has a mass of approximately 141 kDa. This protein is expressed in several regions of the brain including the cerebral cortex hippocampus and cerebellum. It plays a role in neuronal development where it impacts neural progenitor cell proliferation and differentiation. Expression of AUTS2 is often regulated during key neurodevelopmental stages.

Biological function summary

The AUTS2 protein is involved in chromatin remodeling impacting gene expression regulation during brain development. It functions as part of a complex involving other transcription factors and regulators to influence diverse neural processes. This involvement in chromatin remodeling highlights its role in controlling when and how genes are activated within cells impacting neurodevelopmental processes significantly.

Pathways

AUTS2 participates in the regulation of neuronal signaling pathways such as the Wnt signaling pathway which is key for cell fate determination during development. Proteins like TCF/LEF are related to AUTS2 through the Wnt signaling pathway where they serve as transcriptional mediators affected by the pathway's activity. This connection indicates AUTS2's role in maintaining the balance between progenitor cell proliferation and differentiation in neural tissues.

Associated diseases and disorders

AUTS2 has a significant association with autism spectrum disorders (ASD) and intellectual disability. Disruptions or mutations in the AUTS2 gene often associate with these neurodevelopmental conditions. The protein also has connections with other proteins like CHD8 which is often mutated in autism suggesting that alterations affecting AUTS2 could influence broader functional networks in the brain responsible for cognitive development and behavior.