Anti-Ataxin 7 antibody [EPR24136-89] - BSA and Azide free

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Ataxin 7 also known as ATXN7 is a protein encoded by the ATXN7 gene. This protein has a molecular mass of about 104 kDa. It plays a role in transcriptional regulation and is involved in the assembly of multiprotein complexes. ATXN7 is predominantly expressed in the brain especially within regions like the cerebellum but can also be found in other tissues throughout the human body.

Biological function summary

Ataxin 7 functions as a part of the SAGA (Spt-Ada-Gcn5 acetyltransferase) complex a multi-subunit structure that is vital for transcriptional co-activation. It helps regulate gene expression by modulating histone acetylation which in turn influences chromatin structure and accessibility. The protein interacts with various other components of the SAGA complex playing a significant role in ensuring the stability and function of the complex.

Pathways

Ataxin 7 involves itself in the regulation of the Notch signaling pathway which is important for cellular differentiation and proliferation. This protein also plays a role in the ubiquitin-proteasome pathway which regulates protein degradation. Through these pathways Ataxin 7 is related to other proteins such as Notch receptors and ubiquitin ligases linking its function to broader cellular processes.

Associated diseases and disorders

Mutations or polyglutamine expansions in the ATXN7 gene lead to spinocerebellar ataxia type 7 (SCA7) a neurodegenerative disorder characterized by progressive cerebellar ataxia and retinal degeneration. Ataxin 7 mutations may influence the aggregation of proteins like aggregates of ubiquitinated proteins which are connected to the pathology of SCA7. This highlights the role of Ataxin 7 in maintaining neural and retinal health.