frataxin
Sign in to saveAlso known as Friedreich ataxia protein, FXN, frataxin, mitochondrial
Frataxin is a protein that in humans is encoded by the FXN gene.
Protein · UniProt
Frataxin, mitochondrial
- Gene
- FXN
- Organism
- Homo sapiens (Human)
- Length
- 210 aa
- Molecular mass
- 23,135 Da
- Evidence
- 1: Evidence at protein level
Functions as an activator of persulfide transfer to the scaffoding protein ISCU as component of the core iron-sulfur cluster (ISC) assembly complex and participates to the [2Fe-2S] cluster assembly (PubMed:12785837, PubMed:24971490). Accelerates sulfur transfer from NFS1 persulfide intermediate to ISCU and to small thiols such as L-cysteine and glutathione leading to persulfuration of these thiols and ultimately sulfide release (PubMed:24971490). Binds ferrous ion and is released from FXN upon the addition of both L-cysteine and reduced FDX2 during [2Fe-2S] cluster assembly (PubMed:29576242…
Swiss-Prot (reviewed) · via UniProt
Clinical Trials
105 registered- PHASE1/PHASE2RECRUITINGA Multiple Ascending Dose Study of DT-216P2 in Patients With Friedreich's AtaxiaDesign Therapeutics, Inc. · NCT06874010
- ACTIVE_NOT_RECRUITINGA Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)Monash University · NCT04349514
- NO_LONGER_AVAILABLEEPI-743 for Mitochondrial Respiratory Chain DiseasesPTC Therapeutics · NCT01370447
- PHASE1RECRUITINGA Study of SGT-212 Gene Therapy in Friedreich's AtaxiaSolid Biosciences Inc. · NCT07180355
- NACOMPLETEDRespiratory Training in Friedreich's AtaxiaUniversity of Florida · NCT06539598
- PHASE3ACTIVE_NOT_RECRUITINGA Study to Assess the Safety and Efficacy of Vatiquinone in Participants With Friedreich AtaxiaPTC Therapeutics · NCT05515536
Wikidata facts
- Instance of
- protein
Show 5 more facts
- P352
- Salto Department
- cell component
- mitochondrion
- exact match
- purl.uniprot.org/uniprot/Q16595
- Commons category
- Frataxin
- found in taxon
- Homo sapiens
via Wikidata · CC0
~6 min read
Encyclopedic overview
8 sectionsContents
- Structure
- Function
- Clinical significance
- Animal studies
- Interactions
- References
- Further reading
- External links
Frataxin is a protein that in humans is encoded by the FXN gene.
It is located in the mitochondrion and frataxin mRNA is mostly expressed in tissues with a high metabolic rate. The function of frataxin is not clear but it is involved in assembly of iron-sulfur clusters. It has been proposed to act as either an iron chaperone or an iron storage protein. Reduced expression of frataxin is the cause of Friedreich's ataxia.
Excerpted from Wikipedia’s “frataxin” article, available under the CC BY-SA 4.0 licence.