FXN Gene Summary [Human]
This nuclear gene encodes a mitochondrial protein which belongs to the FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA from 8-33 repeats to >90 repeats results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]
Details
| Type | Nonsense Mediated Decay |
| Official Symbol | FXN |
| Official Name | frataxin [Source:HGNC Symbol;Acc:HGNC:3951] |
| Ensembl ID | ENSG00000165060 |
| Bio databases IDs | |
| Aliases | frataxin |
| Synonyms | CyaY, FA, FARR, FRATAXIN, FRDA, RGD1565754, X25 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human FXN often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- kinase
- ferrous iron binding
- ferric iron binding
- binding protein
- enzyme binding
- protein binding
- enzyme activator activity
- ferroxidase
- metallochaperone
- Frataxin-like domain
- Frataxin
Pathways
Biological processes and signaling networks where the FXN gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- epithelial cancer
- liver cancer
- Friedreich ataxia
- diabetes mellitus
- hereditary disorder
- Friedreich ataxia with retained reflexes
- ataxia
- obesity
- major depression
- hepatocellular carcinoma
role in cell
- expression in
- proliferation
- growth
- apoptosis
- quantity
- activation in
- accumulation in
- synthesis in
- morphology
- organization
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Nucleus
- Mitochondria
- cytosol
- mitochondrial matrix
- mitochondrial inner membrane
- cytosolic fraction
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human FXN gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- negative regulation of multicellular organism growth
- organ growth
- muscle cell homeostasis
- embryo development ending in birth or egg hatching
- positive regulation of cell proliferation
- heme biosynthetic process
- cellular iron ion homeostasis
- adult walking behavior
- positive regulation of cell growth
- oxidative phosphorylation
- response to iron ion
- cellular response to hydrogen peroxide
- positive regulation of lyase activity
- negative regulation of release of cytochrome c from mitochondria
- negative regulation of organ growth
- mitochondrion organization
- [2Fe-2S] cluster assembly
- proprioception
- iron incorporation into metallo-sulfur cluster
- positive regulation of catalytic activity
- iron ion transport
- negative regulation of apoptotic process
- [4Fe-4S] cluster assembly
- protein autoprocessing
- regulation of ferrochelatase activity
- iron-sulfur cluster assembly
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- cytosol
Molecular Function
What the gene product does at the molecular level
- protein binding
- ferric iron binding
- ferrous iron binding
- ferroxidase activity
- 2 iron, 2 sulfur cluster binding
- iron chaperone activity