ATXN8OS
Template:Short description Template:Infobox gene Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene.[1]
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.[2] Presumably the expansion interferes with normal antisense function of this transcript.[1]
See also
References
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Further reading
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