| Protein Name | ataxin 8 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 724066 |
| Gene Symbol | ATXN8 |
| UniProt | - |
| Relationships |
Total Number of functionally related compound(s) :
21
Total Number of Articles : 32 |
Description |
ataxin 8 |
| Gene Summary |
Spinocerebellar ataxia-8 (SCA8; {608768}) is a neurodegenerative disorder caused by a CTG/CAG trinucleotide repeat expansion on chromosome 13q21 (see {603680.0001} and {613289.0001}). Two genes span the CTG/CAG repeat and are expressed in opposite directions: ATXN8, which encodes a nearly pure polyglutamine expansion protein in the CAG direction, and ATXN8OS ({603680}), which, when transcribed, produces a noncoding CUG expansion RNA ({2:Moseley et al., 2006}).[supplied by OMIM, Mar 2010] |
| synonyms |
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| Properties | |