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Gene : 108663996 Homo sapiens

Description  This biological region is found within the coding region of the TATA-box binding protein (TBP) gene on the q arm of chromosome 6, and contains a CAG/CAA trinucleotide repeat. The structure of the repeat is (CAG)3(CAA)3(CAG)x CAA CAG CAA (CAG)y CAA CAG. Expansions of the repeats result in an elongated polyglutamine tract in the encoded protein. Expansions are known to be a cause of spinocerebellar ataxia type 17 (SCA17) an autosomal dominant neurodegenerative disorder. Expanded alleles that are stably transmitted between successive generations contain the CAA CAG CAA interruption between the (CAG)x and (CAG)y repeats, while those displaying size instability during transmission lack the CAA CAG CAA interruption. There is allelic variation at this locus, with most non-disease alleles containing 25-40 CAG/CAA repeats. Alleles with 41-48 CAG/CAA repeats have variable penetrance, while alleles with greater than 49 repeats are fully penetrant. There is an inverse correlation between the length of the CAG/CAA repeat and age of disease onset.0 [provided by RefSeq, Sep 2016]
  • identifiers:
  • 108663996

Genome feature

Region: gene ?
Location: No location information in HumanMine

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0 Pathways

Gene --> GO terms.

Gene -> HPO annotation (Human Phenotype Ontology)

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0 Diseases

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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1 Data Sets

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0 Located Features

0 Rna Seq Results