Aliases for LOC109461478 Gene
External Ids for LOC109461478 Gene
- Entrez Gene: 109461478
This biological region is found near the 3' end of the ATXN8 opposite strand (non-protein coding) gene on the q arm of chromosome 13. This region contains a highly polymorphic (CTG)n trinucleotide repeat that is adjacent to a stably transmitted, but polymorphic, (CTA)n repeat. Expansions of the CTG repeat can be associated with spinocerebellar ataxia type 8, an autosomal dominant disorder. Most normal alleles contain about 15-50 triplet repeat units, but repeat lengths of greater than 1300 repeat units have been observed in some expanded alleles. Reduced penetrance is observed for some alleles, and is more commonly seen amongst alleles with less than 100 repeats. Paternal transmission of the allele is biased towards contractions of the repeat while maternal transmissions are biased towards expansion of the repeat. Both toxicity of transcripts with the expanded allele, and repeat-associated non-ATG translation (RAN translation) have been implicated in disease pathogenesis. [provided by RefSeq, Dec 2016]
GeneCards Summary for LOC109461478 Gene
LOC109461478 (ATXN8 Opposite Strand (Non-Protein Coding) Repeat Instability Region) is a Biological Region gene.