ATXN8OS
(Redirected from SCA8)
Lua error in Module:Infobox_gene at line 53: attempt to index field 'wikibase' (a nil value). Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene.[1]
Function
[edit | edit source]SCA8 is an antisense transcript to the KLHL1 gene (homolog to the Drosophila KELCH gene); it does not itself appear to be protein coding. A cytidine, thymidine, guanosine (CTG) trinucleotide repeat expansion that is incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. When the CTG expansion is present, a polyglutamine mutant protein is produced.[2] Presumably the expansion interferes with normal antisense function of this transcript.[1]
See also
[edit | edit source]References
[edit | edit source]Further reading
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External links
[edit | edit source]- GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 8
- Human ATXN8OS genome location and ATXN8OS gene details page in the UCSC Genome Browser.
