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 enable 2 iron, 2 sulfur cluster binding activity; iron chaperone activity; and iron ion binding activity. Acts upstream of or within cranial skeletal system development and pronephros formation. Predicted to be active in mitochondrion. Human ortholog(s) of this gene implicated in Friedreich ataxia; Friedreich ataxia 1; glioblastoma; 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
- 7 figures from Ercanbrack et al., 2024
- 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 | Additional Resources | Length | Frataxin | Frataxin conserved site | Frataxin/CyaY | Frataxin/CyaY superfamily |
|---|---|---|---|---|---|---|
| UniProtKB:A2RRV1 | InterPro | 169 | ||||
| UniProtKB:A0A8M1NC77 | InterPro | 200 |
Interactions and Pathways
No data available
Plasmids
No data available