ATXN8OS

Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene.^[2]

ATXN8OS
Identifiers
Aliases	ATXN8OS, KLHL1AS, NCRNA00003, SCA8, ATXN8 opposite strand (non-protein coding), ATXN8 opposite strand lncRNA
External IDs	OMIM: 603680; GeneCards: ATXN8OS; OMA:ATXN8OS - orthologs
Orthologs Species Human Mouse Entrez 6315 n/a Ensembl ENSG00000230223 n/a UniProt n a n/a RefSeq (mRNA) n/a n/a RefSeq (protein) n/a n/a Location (UCSC) n/a n/a PubMed search [1] n/a
Wikidata
View/Edit Human

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

• RAN translation
• Trinucleotide repeat disorder