Gene
fxn
- ID
- ZDB-GENE-070209-286
- Name
- frataxin
- Symbol
- fxn Nomenclature History
- Previous Names
-
- zgc:158218
- Type
- protein_coding_gene
- Location
- Chr: 8 Mapping Details/Browsers
- Description
- Predicted to have 2 iron, 2 sulfur cluster binding activity; ferroxidase activity; and iron ion binding activity. Predicted to be involved in cellular iron ion homeostasis; iron incorporation into metallo-sulfur cluster; and mitochondrion organization. Predicted to localize to mitochondrion. Human ortholog(s) of this gene implicated in Friedreich ataxia; Friedreich ataxia 1; and type 2 diabetes mellitus. Orthologous to human FXN (frataxin).
- Genome Resources
- Note
- None
- Comparative Information
-
- All Expression Data
- No data available
- Cross-Species Comparison
- High Throughput Data
- Thisse Expression Data
- No data available
Wild Type Expression Summary
- All Phenotype Data
- No data available
- Cross-Species Comparison
- Alliance
Phenotype Summary
Mutations
Human Disease
| Disease Ontology Term | Multi-Species Data | OMIM Term | OMIM Phenotype ID |
|---|---|---|---|
| Friedreich ataxia 1 | Alliance | Friedreich ataxia | 229300 |
| Friedreich ataxia 1 | Alliance | Friedreich ataxia with retained reflexes | 229300 |
Domain, Family, and Site Summary
Domain Details Per Protein
| Protein | Length | Frataxin | Frataxin conserved site | Frataxin/CyaY | Frataxin/CyaY superfamily |
|---|---|---|---|---|---|
|
UniProtKB:A2RRV1
|
169 |
Interactions and Pathways
No data available
Plasmids
No data available