ATXN8OS

Ataxin 8 opposite strand
Identifiers
Symbols	ATXN8OS ; SCA8; KLHL1AS
External IDs	Template:OMIM5
Gene ontology
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	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	n/a	n/a

WikiDoc Resources for ATXN8OS
Articles
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Guidelines / Policies / Govt
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Definitions
Definitions of ATXN8OS
Patient Resources / Community
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Continuing Medical Education (CME)
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Experimental / Informatics
List of terms related to ATXN8OS

Ataxin 8 opposite strand, also known as ATXN8OS, is a human gene.

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 CTG trinucleotide repeat expansion that is incorporated into the SCA8 but not the KLHL1 transcript causes spinocerebellar ataxia type 8. Presumably the expansion interferes with normal antisense function of this transcript.

Further reading

• Koob MD, Moseley ML, Schut LJ; et al. (1999). "An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)". Nat. Genet. 21 (4): 379–84. doi:10.1038/7710. PMID 10192387.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Nemes JP, Benzow KA, Moseley ML; et al. (2000). "The SCA8 transcript is an antisense RNA to a brain-specific transcript encoding a novel actin-binding protein (KLHL1)". Hum. Mol. Genet. 9 (10): 1543–51. PMID 10888605.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Jardim LB, Silveira I, Pereira ML; et al. (2002). "A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations". J. Neurol. 248 (10): 870–6. PMID 11697524.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Benzow KA, Koob MD (2002). "The KLHL1-antisense transcript ( KLHL1AS) is evolutionarily conserved". Mamm. Genome. 13 (3): 134–41. doi:10.1007/s00335-001-2105-2. PMID 11919683.
• Brusco A, Cagnoli C, Franco A; et al. (2002). "Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1-3, 6 and 7 CAG expansions". J. Neurol. 249 (7): 923–9. doi:10.1007/s00415-002-0760-y. PMID 12140678.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Andrés AM, Soldevila M, Saitou N; et al. (2003). "Understanding the dynamics of Spinocerebellar Ataxia 8 (SCA8) locus through a comparative genetic approach in humans and apes". Neurosci. Lett. 336 (3): 143–6. PMID 12505613.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wu YR, Lin HY, Chen CM; et al. (2004). "Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease". Clin. Genet. 65 (3): 209–14. PMID 14756671.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Sułek A, Hoffman-Zacharska D, Bednarska-Makaruk M; et al. (2004). "Polymorphism of trinucleotide repeats in non-translated regions of SCA8 and SCA12 genes: allele distribution in a Polish control group". J. Appl. Genet. 45 (1): 101–5. PMID 14960773.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ikeda Y, Dalton JC, Moseley ML; et al. (2004). "Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia". Am. J. Hum. Genet. 75 (1): 3–16. doi:10.1086/422014. PMID 15152344.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Factor SA, Qian J, Lava NS; et al. (2005). "False-positive SCA8 gene test in a patient with pathologically proven multiple system atrophy". Ann. Neurol. 57 (3): 462–3. doi:10.1002/ana.20389. PMID 15732096.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Moseley ML, Zu T, Ikeda Y; et al. (2006). "Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8". Nat. Genet. 38 (7): 758–69. doi:10.1038/ng1827. PMID 16804541.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)