Disease relevance of Atxn2

• On a fat-enriched diet, ataxin-2 deficient animals had increased weight gain [1].
• Our results demonstrate that ataxin-2, although widely expressed, is not essential in development or during adult survival in the mouse, but leads to adult-onset obesity [1].

High impact information on Atxn2

• Since TCR-mediated apoptosis is pivotal in thymic ontogeny, these results suggest that TSA-1/Sca-2 is an important cell surface molecule regulating the fate of a developing T cell [2].
• During T cell development in the thymus, the expression of thymic shared antigen-1 (TSA-1)/stem cell antigen-2 (Sca-2), a glycosylphosphatidylinositol (GPI)-anchored differentiation antigen, is developmentally regulated [2].
• These results suggest a link between cell death mediated by mutant ataxin-2 and the stability of the Golgi complex [3].
• In animal models with expression of mutant ataxin-2 targeted to Purkinje cells, neuronal dysfunction and morphologic changes are observed without the formation of intranuclear aggregates [3].
• Thymic shared antigen-1 (TSA-1)/stem cell Ag-2 (Sca-2) is a glycosylphosphatidylinositol (GPI)-anchored antigen expressed on lymphocytes [4].

Biological context of Atxn2

• Its interaction with A2BP1/Fox-1, a protein with an RNA recognition motif, suggests involvement of ataxin-2 in mRNA translation or transport [1].
• Specific degeneration of Purkinje neurons and transgene over-expression in the brain, liver and skeletal muscle, rather than in lungs and kidneys was also observed, resembling the expression pattern of the ataxin 2 in humans [5].

Anatomical context of Atxn2

• Immunohistochemical staining using affinity-purified antibodies demonstrated that ataxin 2 was expressed in the cytoplasm of Purkinje cells as well as in other neurons of the CNS [6].
• Maturation of the thymus population was also evident from the high frequencies of single positive CD4+ and CD8+ cells and the decline in Sca-2 expression [7].
• Expression of full-length ataxin-2 with an expanded repeat disrupted the normal morphology of the Golgi complex and colocalization with Golgi markers was lost [3].
• A second Ag, stem cell Ag-2 (Sca-2), is expressed by Thy-1loLin+Sca-1+ cells but not by Thy-1loLin-Sca-1+ cells [8].
• By facilitating the isolation of highly purified subpopulations of bone marrow cells that can repopulate the thymus, Sca-1 and Sca-2 should provide an experimental tool for describing the developmental potential of such bone marrow subsets [8].

Associations of Atxn2 with chemical compounds

• Human ataxin-2 contains a polyglutamine repeat that is expanded in patients with spinocerebellar ataxia type 2 (SCA2) [9].

Other interactions of Atxn2

• Ataxin-2, the gene product of the Spinocerebellar Ataxia Type 2 (SCA2) gene, is a protein of unknown function with abundant expression in embryonic and adult tissues [1].

Analytical, diagnostic and therapeutic context of Atxn2

• Monoclonal antibody directed to the N-terminal of the ataxin 2 protein with 22Q was used for Western blot analysis [5].

References