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] See more...

Aliases for FXN Gene

Aliases for FXN Gene

  • Frataxin 2 3 5
  • X25 2 3 4
  • Friedreich Ataxia Protein 3 4
  • Frataxin, Mitochondrial 3 4
  • CyaY 2 3
  • FARR 2 3
  • FRDA 3 4
  • FA 2 3
  • Friedreich Ataxia 2
  • EC 1.16.3.1 4
  • FXN 5
  • Fxn 4

External Ids for FXN Gene

Previous HGNC Symbols for FXN Gene

  • FRDA

Previous GeneCards Identifiers for FXN Gene

  • GC09P068879
  • GC09P070840
  • GC09P071650
  • GC09P041495

Summaries for FXN Gene

Entrez Gene Summary for FXN Gene

  • 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]

GeneCards Summary for FXN Gene

FXN (Frataxin) is a Protein Coding gene. Diseases associated with FXN include Friedreich Ataxia and Hereditary Ataxia. Among its related pathways are Metabolism of proteins and Mitochondrial protein import. Gene Ontology (GO) annotations related to this gene include iron-sulfur cluster binding and ferrous iron binding.

UniProtKB/Swiss-Prot Summary for FXN Gene

  • 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.

Gene Wiki entry for FXN Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FXN Gene

Genomics for FXN Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for FXN Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FXN on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FXN

Top Transcription factor binding sites by QIAGEN in the FXN gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for FXN Gene

Latest Assembly
chr9:69,035,751-69,079,076
(GRCh38/hg38)
Size:
43,326 bases
Orientation:
Plus strand

Previous Assembly
chr9:71,650,668-71,693,992
(GRCh37/hg19 by Entrez Gene)
Size:
43,325 bases
Orientation:
Plus strand

chr9:71,650,175-71,715,094
(GRCh37/hg19 by Ensembl)
Size:
64,920 bases
Orientation:
Plus strand

Genomic View for FXN Gene

Genes around FXN on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FXN Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FXN Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for FXN Gene

Proteins for FXN Gene

  • Protein details for FXN Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q16595-FRDA_HUMAN
    Recommended name:
    Frataxin, mitochondrial
    Protein Accession:
    Q16595
    Secondary Accessions:
    • A8MXJ6
    • C9JJ89
    • O15545
    • O95656
    • Q15294
    • Q5VZ01

    Protein attributes for FXN Gene

    Size:
    210 amino acids
    Molecular mass:
    23135 Da
    Quaternary structure:
    • Monomer (probable predominant form). Oligomer. Monomers and polymeric aggregates of >1 MDa have been isolated from mitochondria. A small fraction of heterologous overexpressed recombinant frataxin forms high-molecular weight aggregates that incorporate iron (PubMed:11823441, PubMed:12755598, PubMed:15641778, PubMed:15581888). Interacts with LYRM4 (PubMed:17331979). Interacts with ACO1 (PubMed:20053667). Interacts with ISCU isoform 1 and isoform 2 (PubMed:12785837, PubMed:16091420). Interacts with FECH; one iron-bound FXN monomer seems to interact with a FECH homodimer (PubMed:15123683). Interacts with SDHA and SDHB (PubMed:15961414). Interacts with ACO2; the interaction is dependent on citrate (By similarity). Interacts with HSPA9 (PubMed:17331979, PubMed:26702583).
    Miscellaneous:
    • The unusual migration profile of mature frataxin on SDS-PAGE due to its acidic N-terminus most likely contributed to conflicting reports for the N-terminus of the mature protein. Unlike prokaryotic and yeast frataxin homologs, which self-assemble at high iron concentrations, oligomerization of human frataxin is not induced by iron. The existence of a specialized mitochondrial ferritin in mammalia (FTMT) is suggesting that iron storage would be redundant function, at least in mammalian mitochondria.
    • [Isoform 2]: Not highly expressed and may be artifactual.

    Three dimensional structures from OCA and Proteopedia for FXN Gene

    Alternative splice isoforms for FXN Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FXN Gene

Post-translational modifications for FXN Gene

  • Processed in two steps by mitochondrial processing peptidase (MPP). MPP first cleaves the precursor to intermediate form and subsequently converts the intermediate to yield frataxin mature form (frataxin(81-210)) which is the predominant form. The additional forms, frataxin(56-210) and frataxin(78-210), seem to be produced when the normal maturation process is impaired; their physiological relevance is unsure.
  • Ubiquitination at Lys197
  • Modification sites at PhosphoSitePlus

Other Protein References for FXN Gene

Antibodies for research

  • Boster Bio Antibodies for FXN

No data available for DME Specific Peptides for FXN Gene

Domains & Families for FXN Gene

Gene Families for FXN Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins
  • Transporters

Protein Domains for FXN Gene

InterPro:
Blocks:
  • Frataxin signature
ProtoNet:

Suggested Antigen Peptide Sequences for FXN Gene

GenScript: Design optimal peptide antigens:
  • Friedreich ataxia protein (FRDA_HUMAN)
  • Frataxin (O96034_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q16595

UniProtKB/Swiss-Prot:

FRDA_HUMAN :
  • Belongs to the frataxin family.
Family:
  • Belongs to the frataxin family.
genes like me logo Genes that share domains with FXN: view

Function for FXN Gene

Molecular function for FXN Gene

UniProtKB/Swiss-Prot Function:
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.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=4 Fe(2+) + 4 H(+) + O2 = 4 Fe(3+) + 2 H2O; Xref=Rhea:RHEA:11148, ChEBI:CHEBI:15377, ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033, ChEBI:CHEBI:29034; EC=1.16.3.1; Evidence={ECO:0000269|PubMed:15641778};.

Enzyme Numbers (IUBMB) for FXN Gene

Phenotypes From GWAS Catalog for FXN Gene

Gene Ontology (GO) - Molecular Function for FXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0004322 ferroxidase activity IEA,IDA 15641778
GO:0005515 protein binding IPI 15123683
GO:0008198 ferrous iron binding IDA 12785837
GO:0008199 ferric iron binding IEA,IDA 12785837
GO:0016491 oxidoreductase activity IEA --
genes like me logo Genes that share ontologies with FXN: view
genes like me logo Genes that share phenotypes with FXN: view

Human Phenotype Ontology for FXN Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for FXN Gene

MGI Knock Outs for FXN:
  • Fxn Fxn<tm1Mkn>
  • Fxn Fxn<tm2.1Mkn>

miRNA for FXN Gene

miRTarBase miRNAs that target FXN

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXN

No data available for Transcription Factor Targets and HOMER Transcription for FXN Gene

Localization for FXN Gene

Subcellular locations from UniProtKB/Swiss-Prot for FXN Gene

Mitochondrion. Cytoplasm, cytosol. Note=PubMed:18725397 reports localization exclusively in mitochondria. {ECO:0000305 PubMed:18725397}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FXN gene
Compartment Confidence
mitochondrion 5
cytosol 5
plasma membrane 2
extracellular 2
cytoskeleton 2
nucleus 2
endoplasmic reticulum 2
lysosome 2
peroxisome 1
endosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Mitochondria (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005737 cytoplasm IEA --
GO:0005739 mitochondrion IEA,IDA 17468497
GO:0005759 mitochondrial matrix NAS,TAS --
GO:0005829 cytosol IDA 17468497
GO:1990221 L-cysteine desulfurase complex IDA 29491838
genes like me logo Genes that share ontologies with FXN: view

Pathways & Interactions for FXN Gene

genes like me logo Genes that share pathways with FXN: view

Pathways by source for FXN Gene

Gene Ontology (GO) - Biological Process for FXN Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006119 oxidative phosphorylation IEA --
GO:0006783 heme biosynthetic process IEA,NAS 15123683
GO:0006811 ion transport IEA --
GO:0006879 cellular iron ion homeostasis IEA,IMP 18160053
GO:0007005 mitochondrion organization IEA --
genes like me logo Genes that share ontologies with FXN: view

No data available for SIGNOR curated interactions for FXN Gene

Drugs & Compounds for FXN Gene

(21) Drugs for FXN Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Iron Approved Pharma Target 1639
Oxygen Approved, Vet_approved Pharma 0
Ferrous ascorbate Approved Pharma Target 0
Ferrous fumarate Approved Pharma Target 90
Ferrous gluconate Approved Pharma Target 10

(12) Additional Compounds for FXN Gene - From: Novoseek and HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with FXN: view

Transcripts for FXN Gene

mRNA/cDNA for FXN Gene

3 REFSEQ mRNAs :
9 NCBI additional mRNA sequence :
5 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FXN

Alternative Splicing Database (ASD) splice patterns (SP) for FXN Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5a · 5b ^ 6
SP1: - -
SP2: -
SP3: -
SP4: -

Relevant External Links for FXN Gene

GeneLoc Exon Structure for
FXN

Expression for FXN Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FXN Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Protein differential expression in normal tissues from HIPED for FXN Gene

This gene is overexpressed in Liver, secretome (18.7).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FXN Gene



Protein tissue co-expression partners for FXN Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FXN

SOURCE GeneReport for Unigene cluster for FXN Gene:

Hs.20685

mRNA Expression by UniProt/SwissProt for FXN Gene:

Q16595-FRDA_HUMAN
Tissue specificity: Expressed in the heart, peripheral blood lymphocytes and dermal fibroblasts.

Evidence on tissue expression from TISSUES for FXN Gene

  • Nervous system(4.6)
  • Eye(4.4)
  • Heart(2.8)
  • Muscle(2.8)
  • Liver(2.5)
  • Blood(2.4)
  • Pancreas(2.4)
  • Skin(2.2)
  • Kidney(2.1)
  • Thyroid gland(2.1)
  • Bone marrow(2)

Phenotype-based relationships between genes and organs from Gene ORGANizer for FXN Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • endocrine
  • nervous
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • cerebrospinal fluid
  • cranial nerve
  • ear
  • eye
  • head
  • neck
Thorax:
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
Abdomen:
  • kidney
  • pancreas
Pelvis:
  • pelvis
Limb:
  • digit
  • foot
  • lower limb
  • toe
  • upper limb
General:
  • blood vessel
  • peripheral nerve
  • peripheral nervous system
  • spinal column
  • spinal cord
  • vertebrae
genes like me logo Genes that share expression patterns with FXN: view

Primer products for research

No data available for mRNA differential expression in normal tissues for FXN Gene

Orthologs for FXN Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FXN Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia FXN 30
  • 96.19 (n)
Cow
(Bos Taurus)
Mammalia FXN 30 31
  • 79.59 (n)
OneToOne
Dog
(Canis familiaris)
Mammalia FXN 30 31
  • 79.33 (n)
OneToOne
Mouse
(Mus musculus)
Mammalia Fxn 30 17 31
  • 74.96 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Fxn 30
  • 73.86 (n)
Oppossum
(Monodelphis domestica)
Mammalia FXN 31
  • 61 (a)
OneToOne
Chicken
(Gallus gallus)
Aves FXN 30 31
  • 71.36 (n)
OneToOne
Lizard
(Anolis carolinensis)
Reptilia FXN 31
  • 69 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100497789 30
  • 69.44 (n)
Zebrafish
(Danio rerio)
Actinopterygii fxn 30 31
  • 62.82 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta fh 31
  • 40 (a)
OneToOne
Worm
(Caenorhabditis elegans)
Secernentea frh-1 31
  • 43 (a)
OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes YFH1 31 33
  • 32 (a)
OneToOne
Thale Cress
(Arabidopsis thaliana)
eudicotyledons FH 30
  • 45.31 (n)
Rice
(Oryza sativa)
Liliopsida Os01g0783600 30
  • 53.09 (n)
Species where no ortholog for FXN was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Platypus (Ornithorhynchus anatinus)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Squirt (Ciona savignyi)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FXN Gene

ENSEMBL:
Gene Tree for FXN (if available)
TreeFam:
Gene Tree for FXN (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FXN: view image

Paralogs for FXN Gene

(1) SIMAP similar genes for FXN Gene using alignment to 3 proteins:

  • FRDA_HUMAN
  • C9JAX1_HUMAN
  • H7C585_HUMAN

Pseudogenes.org Pseudogenes for FXN Gene

genes like me logo Genes that share paralogs with FXN: view

No data available for Paralogs for FXN Gene

Variants for FXN Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FXN Gene

SNP ID Clinical significance and condition Chr 09 pos Variation AA Info Type
994882 Uncertain Significance: not provided 69,035,852(+) C/T
NM_000144.5(FXN):c.70C>T (p.Leu24Phe)
MISSENSE
994883 Uncertain Significance: not provided 69,035,863(+) C/T
NM_000144.5(FXN):c.81C>T (p.Val27=)
SYNONYMOUS
994884 Uncertain Significance: not provided 69,035,774(+) C/G
NM_000144.5(FXN):c.-9C>G
FIVE_PRIME_UTR
rs104894105 Pathogenic: not provided. Pathogenic: Friedreich's ataxia. Friedreich ataxia (FRDA) [MIM:229300] 69,053,193(+) T/CT/Gp.Leu106Ser
NM_000144.5(FXN):c.317T>C (p.Leu106Ser)
MISSENSE | NONSENSE
rs104894106 Pathogenic: Friedreich's ataxia. Friedreich ataxia (FRDA) [MIM:229300] 69,065,013(+) A/Tp.Ile154Phe
NM_000144.5(FXN):c.460A>T (p.Ile154Phe)
MISSENSE

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FXN Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FXN Gene

Variant ID Type Subtype PubMed ID
dgv4062n106 CNV deletion 24896259
dgv4063n106 CNV deletion 24896259
dgv45e194 CNV deletion 18987734
dgv7665n100 CNV gain 25217958
dgv7666n100 CNV gain 25217958
dgv7667n100 CNV gain 25217958
esv1673718 CNV deletion 17803354
esv2422258 CNV duplication 17116639
esv2624430 CNV deletion 19546169
esv2659849 CNV deletion 23128226
esv2738527 CNV deletion 23290073
esv2738528 CNV deletion 23290073
esv2738530 CNV deletion 23290073
esv2738531 CNV deletion 23290073
esv2761531 CNV gain 21179565
esv3093 CNV loss 18987735
esv3544873 CNV deletion 23714750
esv3544874 CNV deletion 23714750
esv3544875 CNV deletion 23714750
esv3576657 CNV gain 25503493
esv3620551 CNV loss 21293372
esv3891678 CNV gain 25118596
esv3891679 CNV gain 25118596
esv6324 CNV loss 19470904
nsv1035268 CNV loss 25217958
nsv1075245 CNV deletion 25765185
nsv1075651 CNV deletion 25765185
nsv1151955 CNV deletion 26484159
nsv466393 CNV gain 19166990
nsv466397 CNV gain 19166990
nsv508550 CNV deletion 20534489
nsv614547 CNV gain 21841781
nsv614548 CNV gain 21841781
nsv614549 CNV gain 21841781
nsv614550 CNV gain 21841781
nsv614551 CNV loss 21841781
nsv6549 CNV deletion 18451855
nsv6550 CNV deletion 18451855
nsv824939 CNV loss 20364138
nsv957708 CNV deletion 24416366
nsv957715 CNV deletion 24416366
nsv968705 CNV duplication 23825009

Variation tolerance for FXN Gene

Residual Variation Intolerance Score: 66.5% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.90; 18.80% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FXN Gene

Human Gene Mutation Database (HGMD)
FXN
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FXN

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FXN Gene

Disorders for FXN Gene

MalaCards: The human disease database

(56) MalaCards diseases for FXN Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

Disorder Aliases PubMed IDs
friedreich ataxia
  • frda
hereditary ataxia
  • ataxias hereditary
autosomal recessive disease
  • autosomal recessive disorder
vitamin e, familial isolated deficiency of
  • ved
friedreich ataxia 2
  • frda2
- elite association - COSMIC cancer census association via MalaCards
Search FXN in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

FRDA_HUMAN
  • Friedreich ataxia (FRDA) [MIM:229300]: Autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy it is the most common inherited ataxia. The disorder is usually manifest before adolescence and is generally characterized by incoordination of limb movements, dysarthria, nystagmus, diminished or absent tendon reflexes, Babinski sign, impairment of position and vibratory senses, scoliosis, pes cavus, and hammer toe. In most patients, FRDA is due to GAA triplet repeat expansions in the first intron of the frataxin gene. But in some cases the disease is due to mutations in the coding region. {ECO:0000269 PubMed:10732799, ECO:0000269 PubMed:10874325, ECO:0000269 PubMed:19629184, ECO:0000269 PubMed:9150176, ECO:0000269 PubMed:9779809, ECO:0000269 PubMed:9989622, ECO:0000269 Ref.36, ECO:0000269 Ref.7, ECO:0000269 Ref.8}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FXN

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FXN: view

No data available for Genatlas for FXN Gene

Publications for FXN Gene

  1. Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones. (PMID: 17331979) Shan Y … Cortopassi G (Human molecular genetics 2007) 3 4 23 74
  2. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. (PMID: 9989622) Cossée M … Pandolfo M (Annals of neurology 1999) 3 4 23 74
  3. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. (PMID: 8596916) Campuzano V … Pandolfo M (Science (New York, N.Y.) 1996) 2 3 4 74
  4. Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin. (PMID: 20053667) Condò I … Testi R (Human molecular genetics 2010) 3 4 23
  5. The in vivo mitochondrial two-step maturation of human frataxin. (PMID: 18725397) Schmucker S … Puccio H (Human molecular genetics 2008) 3 4 23

Products for FXN Gene

Sources for FXN Gene