ATXN8OS


Description

The ATXN8OS (ATXN8 opposite strand lncRNA) is a ncRNA gene located on chromosome 13.

ATXN8OS, also known as Ataxin 8 opposite strand, is a human gene. It is an antisense transcript to the KLHL1 gene and does not appear to code for a protein. A CTG trinucleotide repeat expansion within the ATXN8OS transcript, but not the KLHL1 transcript, causes spinocerebellar ataxia type 8. This expansion leads to the production of a polyglutamine mutant protein, presumably interfering with the normal antisense function of ATXN8OS.

ATXN8OS is an antisense transcript to the KLHL1 gene, meaning it runs in the opposite direction and does not code for a protein itself. It is involved in spinocerebellar ataxia type 8, a neurodegenerative disorder. A CTG trinucleotide repeat expansion within the ATXN8OS transcript, but not the KLHL1 transcript, causes this disorder. This expansion leads to the production of a polyglutamine mutant protein, likely interfering with the normal antisense function of ATXN8OS.

ATXN8OS is also known as KLHL1AS, NCRNA00003, SCA8.

Associated Diseases


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