Tbio FXN Frataxin, mitochondrial

Protein Summary

Description

Promotes the biosynthesis of heme and assembly and repair of iron-sulfur clusters by delivering Fe(2+) to proteins involved in these pathways. May play a role in the protection against iron-catalyzed oxidative stress through its ability to catalyze the oxidation of Fe(2+) to Fe(3+); the oligomeric form but not the monomeric form has in vitro ferroxidase activity. May be able to store large amounts of iron in the form of a ferrihydrite mineral by oligomerization; however, the physiological relevance is unsure as reports are conflicting and the function has only been shown using heterologous overexpression systems. Modulates the RNA-binding activity of ACO1. 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]

Uniprot Accession IDs

• Q16595
• A8MXJ6
• C9JJ89
• O15545
• O95656
• Q15294
• Q5VZ01

Gene Name

• FXN

Ensembl ID

• ENST00000396364
• ENSP00000379650
• ENSG00000165060
• ENST00000396366
• ENSP00000379652
• ENST00000484259
• ENSP00000419243
• ENST00000643639
• ENSP00000496143

Symbol

• FRDA
• X25
• FA
• X25
• CyaY
• FARR
• FRDA

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological process	0.99
biological term	0.9
disease perturbation	0.9
transcription factor binding site profile	0.85
transcription factor perturbation	0.8

Protein Classes

PANTHER Classes

Protein / Transporter / Cation Transporter / Frataxin, Mitochondrial

Protein / Transferase / Kinase / Frataxin, Mitochondrial

DTO Classes

Protein / Enzyme / Transferase / Frataxin, Mitochondrial

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1564.18   (req: < 5)

Gene RIFs: 170   (req: <= 3)

Antibodies: 547   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1564.18   (req: >= 5)

Gene RIFs: 170   (req: > 3)

Antibodies: 547   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 31

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0