Ataxin 7
Mammalian protein found in Homo sapiens / From Wikipedia, the free encyclopedia
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 | |||||||
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Identifiers | |||||||
Symbol | ATXN7 | ||||||
Alt. symbols | SCA7 | ||||||
NCBI gene | 6314 | ||||||
HGNC | 10560 | ||||||
OMIM | 607640 | ||||||
RefSeq | NM_000333 | ||||||
UniProt | O15265 | ||||||
Other data | |||||||
Locus | Chr. 3 p21.1-p12 | ||||||
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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]