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GENATLAS PHENOTYPE |
last update : 15-01-2021 |
Symbol | SCA8 |
Location | 13q21 |
Name | spinocerebellar ataxia 8 |
Corresponding gene | ATXN8OS , ATXN8 |
Main clinical features |
|
Genetic determination | autosomal dominant |
Function/system disorder | neurology |
Type | disease |
Gene product |
Name | kelch-like 1 antisense (Drosophila) |
Mechanism(s) |
Gene mutation | Chromosome rearrangement | Effect | Comments |
| repeat expansion
|  
| abnormal protein/gain of function
| trinucleotide repeat(CUG)n expansion, unstable 13-34 (>110 repeats), non coding, and intranuclear polyglutamine inclusions
| |
Remark(s) |
bidirectional expression of CUG and CAG expansion transcripts and
intranuclear polyglutamine inclusions, from both sense and antisense strands
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