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.[1] ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).

ataxin 7
Identifiers
SymbolATXN7
Alt. symbolsSCA7
NCBI gene6314
HGNC10560
OMIM607640
RefSeqNM_000333
UniProtO15265
Other data
LocusChr. 3 p21.1-p12
Search for
StructuresSwiss-model
DomainsInterPro

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.[2]

Research suggest that silencing of ataxin-7 in the retina by RNAi can be a possible therapeutic strategy for patients with SCA7 retinal degeneration.[3]

References
  1. Scheel H, Tomiuk S, Hofmann K (November 2003). "Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics". Human Molecular Genetics. 12 (21): 2845–2852. doi:10.1093/hmg/ddg297. PMID 12944423.
  2. Wolfe MS (18 April 2018). Wolfe MS (ed.). The molecular and cellular basis of neurodegenerative diseases: underlying mechanisms. ISBN 978-0-12-811304-2. OCLC 1040033113.
  3. Ramachandran PS, Bhattarai S, Singh P, Boudreau RL, Thompson S, Laspada AR, et al. (2014). "RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration". PLOS ONE. 9 (4): e95362. Bibcode:2014PLoSO...995362R. doi:10.1371/journal.pone.0095362. PMC 3997397. PMID 24759684.

Further reading


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