Property Summary

NCBI Gene PubMed Count 29
PubMed Score 0.00
PubTator Score 12.41

Knowledge Summary

Patent

No data available

Synonym

Accession P0DMR3
Symbols SCA8
KLHL1AS
NCRNA00003

Gene

 GO Component (1)

 Compartment GO Term (1)

Gene RIF (26)

PMID Text
24040107 the ATXN8OS putative ORF protein could be translatable and may be expressed via a naturally occurring non-AUG start codon.
19680539 SCA8 RNA dysregulate MBNL/CELF regulated pathways in the brain and plays a significant role in spinocerebellar ataxia type 8.
19680445 Both toxic protein and RNA of SCA8 contributes to Spinocerebellar Ataxias type 8.
19235102 Observational study of gene-disease association. (HuGE Navigator)
19229559 assessed the SCA8 repeat size ranges in Taiwanese Parkinson's disease, Alzheimer's disease and atypical parkinsonism and investigated the genetic variation modulating ATXN8 expression
18841561 frequency of ATXN8OS (CTA/CTG)n repeat expansion in spinocerebellar ataxia(SCA) patients in Mainland China.
18841561 Observational study of gene-disease association. (HuGE Navigator)
18708037 SCA8 was expressed in human brain, testis, kidney, prostate gland and, as not known previously, in the pancreas; it was also expressed in the testes but not the ovaries.
18684474 Coexistence of SCA8 repeat expansion with 16q-ADCA may be involved in the pathogenesis and severe symptoms in this family.
17132942 Molecular genetics of spinocerebellar ataxia type 8.
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AA Sequence

MPCPGAPCCSLVATGSRVPFSGLKEEEEEDGEDDEEEEEEGFFQKVLTPLLSWLLSRRLWLGPQCSKLPL      1 - 70
PSCCRQPPPAGPPVEGDGWLKSFQRSRRMCFTSKSFRPEPDMLYAQKAKGWQLTQDSGGWEVQDQCTRIW     71 - 140
SKENLLALNTHSRRQKGKRENKVCVSTWQKSRGDRTYSSMATTPSMTKILEGCMYRKLKC              141 - 200
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Text Mined References (28)

PMID Year Title
24040107 2013 Internal ribosome entry segment activity of ATXN8 opposite strand RNA.
19680539 2009 RNA gain-of-function in spinocerebellar ataxia type 8.
19680445 2009 SCA8 CAG/CTG expansions, a tale of two TOXICities: a unique or common case?
19235102 Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia.
19229559 2009 SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.
18841561 2008 [Studies on the CTA/CTG trinucleotide repeats of ATXN8OS gene in Chinese Hans].
18708037 2008 SCA8 mRNA expression suggests an antisense regulation of KLHL1 and correlates to SCA8 pathology.
18684474 2008 Severe symptoms of 16q-ADCA coexisting with SCA8 repeat expansion.
17132942 2005 Molecular genetics of spinocerebellar ataxia type 8 (SCA8).
16804541 2006 Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8.
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