ATXN8OS
Non-coding RNA in the species Homo sapiens From Wikipedia, the free encyclopedia
Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene.[2]
ATXN8OS | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | ATXN8OS, KLHL1AS, NCRNA00003, SCA8, ATXN8 opposite strand (non-protein coding), ATXN8 opposite strand lncRNA | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 603680; GeneCards: ATXN8OS; OMA:ATXN8OS - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Function
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.[3] Presumably the expansion interferes with normal antisense function of this transcript.[2]
See also
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Further reading
External links
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