LP19791-0
FXN gene.GAA repeats
Active
Description
The GAA trinucleotide repeat expansion in the FXN gene causes Friedreich ataxia, a neuromuscular condition with symptoms of ataxia, impaired speech, spasticity, and gradual loss of strength and sensation in the arms and legs. Most individuals with Friedreich ataxia have the expanded GAA trinucleotide repeat in both copies of the FXN gene. The GAA segment is repeated 66 to more than 1,000 times. About 2 percent of people with this condition have an expanded GAA trinucleotide repeat in one copy of the FXN gene and another kind of mutation in the other copy of the gene. Mutations in the FXN gene disrupt production of frataxin, greatly reducing the amount of this protein in cells. Source: Genetic Home Reference, National Library of Medicine, FXN gene
Basic Part Properties
- Part Display Name
- FXN gene GAA repeats
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- FXN gene GAA Rpt
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP19791-0
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FRDA 基因.GAA 重复序列 |
| et-EE | Estonian (Estonia) | FRDA geen.GAA kordused |
| es-ES | Spanish (Spain) | Repeticiones GAA del gen FXN |
| it-IT | Italian (Italy) | FRDA, gene.GAA ripetizioni Synonyms: Ripetizioni GAA del gene FRDA |
| tr-TR | Turkish (Turkey) | FRDA geni.GAA tekrarları |
| ru-RU | Russian (Russian Federation) | FRDA ген.GAA повторы |
| nl-NL | Dutch (Netherlands) | FRDA-gen.GAA repeats Synonyms: FRDA gen.GAA repeats |
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