LP33147-7
FXN gene
Active
Descriptions
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
The FXN gene (frataxin) [HGNC Gene ID:3951] is located on chromosome 9q21.11. This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009] [NCBI Gene ID:2395] Source: National Center for Biotechnology Information (NCBI) Gene
Reference Information
| Type | Source | Reference |
|---|---|---|
| Webcontent | Online Mendelian Inheritance in Man®Copyright OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University. | Link to OMIM |
Basic Part Properties
- Part Name
- FXN gene
- Part Display Name
- FXN gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2004-02-10
- Construct for LOINC Short Name
- FXN gene
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | FRDA 基因 Synonyms: FARR; |
| fr-CA | French (Canada) | Gène FXN |
| et-EE | Estonian (Estonia) | FRDA geen |
| es-ES | Spanish (Spain) | Gen FXN |
| it-IT | Italian (Italy) | FRDA, gene Synonyms: Gene FRDA |
| tr-TR | Turkish (Turkey) | FRDA geni |
| ru-RU | Russian (Russian Federation) | FRDA ген |
| nl-NL | Dutch (Netherlands) | FRDA-gen Synonyms: FRDA gen |
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