• Source: Ataxin 7

Ataxin 7 (ATXN7) is a protein of the SCA7 gene, which contains 892 amino acids with an expandable poly(Q) region close to the N-terminus. The expandable poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies. ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).
CAG repeat leads to pathological protein misfolding. In ataxin-7 gene has shown to cause cerebellar and brainstem degeneration as well as retinal conerod dystrophy. Polyglutamine (polyQ) expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to the symptoms of ataxia with visual loss.
Research suggest that silencing of ataxin-7 in the retina by RNAi can be a possible therapeutic strategy for patients with SCA7 retinal degeneration.




References






Further reading






External links


GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 7
ataxin-7 at the U.S. National Library of Medicine Medical Subject Headings (MeSH)
Online Mendelian Inheritance in Man (OMIM): 164500

Kata Kunci Pencarian:

• Ataxin 7
• Ataxin
• Ataxin-2
• Ataxin 1
• Spinocerebellar ataxia
• Chromosome 1
• Huda Zoghbi
• ATXN7L2
• Ataxin 3
• Twinkle (protein)