ATXN8OS [SEP] found in taxon
ATXN8OS
Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene.
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 cystine, thymine, guanine (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 results. Presumably the expansion interferes with normal antisense function of
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- Robert Jan 'Roy' van de Hoek: "Restoration and Recovery for Elna Bakker and Ivan Johnston. "R&R" for the Playa del Rey Frogs and Plants." 2005