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Spinocerebellar ataxia type 7 (SCA7) belongs to a class of hereditary neurodegenrative diseases characterized by abnormally expanded polyglutamine (CAG) repeats at the N-terminus. This autosomal dominant cerebellar ataxia primarily affects the cerebellum, retina, and brain stem and causes dementia, macular degeneration and other neurodegenerative characteristics. SCA7 gene encodes the ubiquitous 892 residue protein ataxin-7. This protein is typically located in the cytoplasm and on the nuclear membrane of normal brain neurons. In cells where there is a mutation of the SCA7 gene, ataxin 7 accumulates in intranuclear inclusions and can result in cell death.
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蛋白别名: Ataxin-7; Spinocerebellar ataxia type 7 protein
基因别名: ADCAII; ATXN7; OPCA3; SCA7
UniProt ID: (Human) O15265
Entrez Gene ID: (Human) 6314