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Gene : LOC108663993 Homo sapiens

Name  ? ataxin 1 repeat instability region Cytological Location  6p23
description  This biological region is found within the coding region of the ataxin 1 (ATXN1) gene on the p arm of chromosome 6, and contains a CAG trinucleotide repeat. Expansions of this repeat result in an elongated polyglutamine tract in the encoded protein. Expansions are known to be a cause of spinocerebellar ataxia type 1 (SCA1) an autosomal dominant neurodegenerative disorder. There is allelic variation at this locus, with most non-disease alleles containing 6-44 CAG repeats, many with CAT trinucleotide interruptions. Alleles with 36-38 CAG repeats, but lacking CAT interruptions can expand upon transmission, resulting in a pathogenic allele. There is an inverse correlation between the length of uninterrupted CAG repeats and age of disease onset. [provided by RefSeq, Sep 2016]
  • identifiers:
  • 108663993,
  • LOC108663993

Genome feature

Region: gene ?
Location: No location information in HumanMine Cyto location: 6p23


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Gene -> HPO annotation (Human Phenotype Ontology)

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Disease

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Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]

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Expression

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1 Cross References

3 Data Sets

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