GAA trinucleotide repeat expansion
GPTKB entity
Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:associatedWith |
gptkb:Friedreich's_ataxia
|
| gptkbp:consequence |
reduced frataxin protein
|
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:effect |
gene silencing
|
| gptkbp:firstDescribed |
1996
|
| gptkbp:foundIn |
intron 1 of FXN gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
GAA trinucleotide repeat expansion
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_9
|
| gptkbp:location |
FXN gene
|
| gptkbp:mechanismOfAction |
impairs transcription elongation
|
| gptkbp:mutationAssociatedWith |
trinucleotide repeat expansion
|
| gptkbp:pathogenicRange |
66-1700 repeats
|
| gptkbp:range |
5-33 repeats
|
| gptkbp:repeatUnit |
gptkb:GAA
|
| gptkbp:bfsParent |
gptkb:Friedreich's_ataxia
|
| gptkbp:bfsLayer |
6
|