frataxin

Also known as Friedreich ataxia protein, FXN, frataxin, mitochondrial

Frataxin is a protein that in humans is encoded by the FXN gene.

In the Vinony graph

Vinony's link graph records 110 inbound references to frataxin, and connects out to mitochondrion, Q180686 and neurodegeneration.

It sits within the topics Genes on human chromosome 9 and Proteins.

Vinony links it to 10 Wikipedia language editions.

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…

3D-structureAlternative splicingCytoplasmDirect protein sequencingDisease variantHeme biosynthesisIon transportIron

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Swiss-Prot (reviewed) · via UniProt

Clinical Trials

105 registered

PHASE1/PHASE2RECRUITING
A Multiple Ascending Dose Study of DT-216P2 in Patients With Friedreich's AtaxiaDesign Therapeutics, Inc. · NCT06874010
ACTIVE_NOT_RECRUITING
A Natural History Study to TRACK Brain and Spinal Cord Changes in Individuals with Friedreich Ataxia (TRACK-FA)Monash University · NCT04349514
NO_LONGER_AVAILABLE
EPI-743 for Mitochondrial Respiratory Chain DiseasesPTC Therapeutics · NCT01370447
PHASE1RECRUITING
A Study of SGT-212 Gene Therapy in Friedreich's AtaxiaSolid Biosciences Inc. · NCT07180355
NACOMPLETED
Respiratory Training in Friedreich's AtaxiaUniversity of Florida · NCT06539598
PHASE3ACTIVE_NOT_RECRUITING
A Study to Assess the Safety and Efficacy of Vatiquinone in Participants With Friedreich AtaxiaPTC Therapeutics · NCT05515536

via ClinicalTrials.gov

Wikidata facts

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P352: Salto Department
exact match: purl.uniprot.org/uniprot/Q16595
Commons category: Frataxin

Sources (4)

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Encyclopedic overview

8 sections

Contents

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.