Details for: FXN

Gene ID: 2395

Symbol: FXN

Ensembl ID: ENSG00000165060

Description: frataxin

Associated with

Cells (max top 100)

(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)

  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 42.0669
    Cell Significance Index: -10.6700
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 38.7932
    Cell Significance Index: -15.7600
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 38.4434
    Cell Significance Index: -18.1500
  • Cell Name: peripheral blood mononuclear cell (CL2000001)
    Fold Change: 35.3237
    Cell Significance Index: -18.1700
  • Cell Name: polychromatophilic erythroblast (CL0000550)
    Fold Change: 30.4092
    Cell Significance Index: -4.7300
  • Cell Name: ileal goblet cell (CL1000326)
    Fold Change: 27.0334
    Cell Significance Index: -18.1400
  • Cell Name: basophilic erythroblast (CL0000549)
    Fold Change: 17.4130
    Cell Significance Index: 7.9300
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 16.6223
    Cell Significance Index: -15.8700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 11.5900
    Cell Significance Index: -14.2900
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.9578
    Cell Significance Index: -15.9600
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.1383
    Cell Significance Index: -16.3300
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 1.1027
    Cell Significance Index: 66.2000
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 1.0996
    Cell Significance Index: 29.4700
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: 0.9414
    Cell Significance Index: 72.2400
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: 0.7406
    Cell Significance Index: 21.7500
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 0.6847
    Cell Significance Index: 618.2600
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.6709
    Cell Significance Index: 92.1400
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 0.6315
    Cell Significance Index: 73.5900
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.6182
    Cell Significance Index: 124.0100
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.5978
    Cell Significance Index: 97.2200
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: 0.5686
    Cell Significance Index: 15.2100
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: 0.5599
    Cell Significance Index: 12.2600
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: 0.4727
    Cell Significance Index: 12.1500
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.4541
    Cell Significance Index: 12.3600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: 0.4485
    Cell Significance Index: 25.1700
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.3868
    Cell Significance Index: 26.7500
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: 0.3810
    Cell Significance Index: 6.5300
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: 0.3077
    Cell Significance Index: 6.4400
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.3012
    Cell Significance Index: 19.4400
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.2925
    Cell Significance Index: 104.9100
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.2738
    Cell Significance Index: 46.7500
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.2475
    Cell Significance Index: 44.6200
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2394
    Cell Significance Index: 130.7600
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.2233
    Cell Significance Index: 11.6000
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2169
    Cell Significance Index: 41.2700
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 0.2034
    Cell Significance Index: 20.1200
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.1944
    Cell Significance Index: 5.6000
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1936
    Cell Significance Index: 23.8000
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.1902
    Cell Significance Index: 4.1200
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.1689
    Cell Significance Index: 4.7200
  • Cell Name: centrilobular region hepatocyte (CL0019029)
    Fold Change: 0.1653
    Cell Significance Index: 2.7900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1632
    Cell Significance Index: 7.6100
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: 0.1431
    Cell Significance Index: 5.4200
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1428
    Cell Significance Index: 63.1200
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: 0.1352
    Cell Significance Index: 5.9800
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.1319
    Cell Significance Index: 91.2500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1283
    Cell Significance Index: 16.5800
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: 0.1038
    Cell Significance Index: 7.3400
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.0973
    Cell Significance Index: 4.4100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0866
    Cell Significance Index: 3.0100
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: 0.0840
    Cell Significance Index: 2.6900
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0789
    Cell Significance Index: 3.7100
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.0672
    Cell Significance Index: 5.0100
  • Cell Name: skeletal muscle myoblast (CL0000515)
    Fold Change: 0.0616
    Cell Significance Index: 0.6700
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0337
    Cell Significance Index: 4.3200
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0080
    Cell Significance Index: 0.1700
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: 0.0043
    Cell Significance Index: 3.2300
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: -0.0022
    Cell Significance Index: -0.0600
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0049
    Cell Significance Index: -3.6600
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0056
    Cell Significance Index: -3.5100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: -0.0088
    Cell Significance Index: -16.5300
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0102
    Cell Significance Index: -7.5000
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: -0.0107
    Cell Significance Index: -19.8100
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: -0.0128
    Cell Significance Index: -19.7400
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: -0.0146
    Cell Significance Index: -19.8100
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0149
    Cell Significance Index: -0.2500
  • Cell Name: peg cell (CL4033014)
    Fold Change: -0.0164
    Cell Significance Index: -0.3800
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0208
    Cell Significance Index: -11.7500
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0235
    Cell Significance Index: -2.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0265
    Cell Significance Index: -16.8100
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0382
    Cell Significance Index: -17.3300
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0431
    Cell Significance Index: -9.0700
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0447
    Cell Significance Index: -12.8600
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0576
    Cell Significance Index: -6.6000
  • Cell Name: intestinal epithelial cell (CL0002563)
    Fold Change: -0.0623
    Cell Significance Index: -0.6500
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: -0.0750
    Cell Significance Index: -3.9400
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: -0.0928
    Cell Significance Index: -18.4200
  • Cell Name: pancreatic endocrine cell (CL0008024)
    Fold Change: -0.0953
    Cell Significance Index: -10.8800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.1184
    Cell Significance Index: -17.2100
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: -0.1221
    Cell Significance Index: -14.4000
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: -0.1454
    Cell Significance Index: -8.9400
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: -0.1530
    Cell Significance Index: -7.9700
  • Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
    Fold Change: -0.1593
    Cell Significance Index: -3.3800
  • Cell Name: periportal region hepatocyte (CL0019026)
    Fold Change: -0.1775
    Cell Significance Index: -2.6200
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.1884
    Cell Significance Index: -4.9600
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1933
    Cell Significance Index: -15.3100
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.1961
    Cell Significance Index: -12.0200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: -0.2109
    Cell Significance Index: -13.2900
  • Cell Name: preadipocyte (CL0002334)
    Fold Change: -0.2121
    Cell Significance Index: -4.1400
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2479
    Cell Significance Index: -3.5500
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.2507
    Cell Significance Index: -3.4200
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.2556
    Cell Significance Index: -6.5300
  • Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
    Fold Change: -0.2804
    Cell Significance Index: -8.9300
  • Cell Name: enteroendocrine cell of small intestine (CL0009006)
    Fold Change: -0.2828
    Cell Significance Index: -7.0700
  • Cell Name: L6b glutamatergic cortical neuron (CL4023038)
    Fold Change: -0.3112
    Cell Significance Index: -10.1900
  • Cell Name: VIP GABAergic cortical interneuron (CL4023016)
    Fold Change: -0.3173
    Cell Significance Index: -6.3700
  • Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
    Fold Change: -0.3226
    Cell Significance Index: -11.3000
  • Cell Name: proerythroblast (CL0000547)
    Fold Change: -0.3266
    Cell Significance Index: -4.6800
  • Cell Name: sst GABAergic cortical interneuron (CL4023017)
    Fold Change: -0.3348
    Cell Significance Index: -6.6200
  • Cell Name: stratified epithelial cell (CL0000079)
    Fold Change: -0.3627
    Cell Significance Index: -13.3200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.

Other Information

**Key Characteristics** Frataxin is a small, mitochondrial protein consisting of 146 amino acids. It is synthesized in the cytosol and imported into the mitochondria, where it assembles iron-sulfur clusters. These clusters are composed of iron and sulfur atoms and are essential for the proper functioning of various mitochondrial enzymes and proteins. Frataxin also exhibits ferroxidase activity, which enables it to oxidize ferrous iron to ferric iron, thereby regulating iron levels within the mitochondria. **Pathways and Functions** Frataxin is involved in several key pathways, including: 1. **Iron-sulfur cluster assembly**: Frataxin assembles iron-sulfur clusters, which are essential for the function of various mitochondrial enzymes, such as the electron transport chain and the citric acid cycle. 2. **Intracellular iron ion homeostasis**: Frataxin regulates iron levels within the mitochondria by oxidizing ferrous iron to ferric iron, thereby preventing iron toxicity. 3. **Mitochondrial function**: Frataxin is essential for the proper functioning of mitochondria, which are the primary site of energy production in cells. 4. **Redox reactions**: Frataxin participates in redox reactions, which are essential for maintaining the balance of reactive oxygen species (ROS) within cells. **Clinical Significance** Mutations in the FXN gene lead to Friedreich's ataxia, a progressive neurodegenerative disorder characterized by: 1. **Impaired motor coordination**: Patients experience progressive loss of motor coordination, leading to ataxia. 2. **Sensory loss**: Patients experience progressive loss of sensory function, including hearing and vision loss. 3. **Cardiac dysfunction**: Patients experience progressive cardiac dysfunction, leading to arrhythmias and heart failure. 4. **Neurodegeneration**: Patients experience progressive neurodegeneration, leading to cognitive decline and dementia. The clinical significance of frataxin is underscored by the fact that mutations in the FXN gene are the primary cause of Friedreich's ataxia, a disorder that affects over 1 in 50,000 individuals worldwide. Understanding the role of frataxin in iron homeostasis and mitochondrial function has significant implications for the development of therapeutic strategies for the treatment of Friedreich's ataxia and other iron-related disorders.

Genular Protein ID: 324811028

Symbol: FRDA_HUMAN

Name: Friedreich ataxia protein

UniProtKB Accession Codes:

Q16595 A8MXJ6 C9JJ89 O15545 O95656 Q15294 Q5VZ01

Database IDs:

ABCD 1 AGR 1 AlphaFoldDB 1 Antibodypedia 1 BMRB 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 2 CDD 1 CORUM 1 CTD 1 ChEBI 5 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DNASU 1 DisGeNET 1 DisProt 1 DrugBank 6 EC 1 EMBL 17 EMDB 4 Ensembl 2 EvolutionaryTrace 1 ExpressionAtlas 1 GO 38 Gene3D 1 GeneCards 1 GeneReviews 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 4 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 NCBIfam 2 OGP 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 15 PDBsum 15 PRINTS 1 PRO 1 PROSITE 2 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 1 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 4 RefSeq 3 Rhea 1 SABIO-RK 1 SASBDB 1 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TCDB 1 TopDownProteomics 2 TreeFam 1 UCSC 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 8596916

Title: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

PubMed ID: 8596916

DOI: 10.1126/science.271.5254.1423

PubMed ID: 15164053

Title: DNA sequence and analysis of human chromosome 9.

PubMed ID: 15164053

DOI: 10.1038/nature02465

PubMed ID: 15489334

Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

PubMed ID: 15489334

DOI: 10.1101/gr.2596504

PubMed ID: 18725397

Title: The in vivo mitochondrial two-step maturation of human frataxin.

PubMed ID: 18725397

DOI: 10.1093/hmg/ddn244

PubMed ID: 17468497

Title: In vivo maturation of human frataxin.

PubMed ID: 17468497

DOI: 10.1093/hmg/ddm102

PubMed ID: 20053667

Title: Molecular control of the cytosolic aconitase/IRP1 switch by extramitochondrial frataxin.

PubMed ID: 20053667

DOI: 10.1093/hmg/ddp592

PubMed ID: 9302253

Title: Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes.

PubMed ID: 9302253

DOI: 10.1093/hmg/6.11.1771

PubMed ID: 9241270

Title: Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin.

PubMed ID: 9241270

DOI: 10.1038/ng0897-345

PubMed ID: 10545606

Title: Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase.

PubMed ID: 10545606

DOI: 10.1093/hmg/8.12.2255

PubMed ID: 10428860

Title: Yeast and human frataxin are processed to mature form in two sequential steps by the mitochondrial processing peptidase.

PubMed ID: 10428860

DOI: 10.1074/jbc.274.32.22763

PubMed ID: 11020385

Title: Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates.

PubMed ID: 11020385

DOI: 10.1074/jbc.m006539200

PubMed ID: 11823441

Title: Assembly and iron-binding properties of human frataxin, the protein deficient in Friedreich ataxia.

PubMed ID: 11823441

DOI: 10.1093/hmg/11.3.217

PubMed ID: 12755598

Title: Structure of frataxin iron cores: an X-ray absorption spectroscopic study.

PubMed ID: 12755598

DOI: 10.1021/bi027021l

PubMed ID: 12785837

Title: Iron-sulfur cluster biosynthesis. Characterization of frataxin as an iron donor for assembly of [2Fe-2S] clusters in ISU-type proteins.

PubMed ID: 12785837

DOI: 10.1021/ja027967i

PubMed ID: 15123683

Title: Frataxin-mediated iron delivery to ferrochelatase in the final step of heme biosynthesis.

PubMed ID: 15123683

DOI: 10.1074/jbc.c400107200

PubMed ID: 15247478

Title: Frataxin acts as an iron chaperone protein to modulate mitochondrial aconitase activity.

PubMed ID: 15247478

DOI: 10.1126/science.1098991

PubMed ID: 15641778

Title: Assembly of human frataxin is a mechanism for detoxifying redox-active iron.

PubMed ID: 15641778

DOI: 10.1021/bi048459j

PubMed ID: 15961414

Title: Frataxin interacts functionally with mitochondrial electron transport chain proteins.

PubMed ID: 15961414

DOI: 10.1093/hmg/ddi214

PubMed ID: 16239244

Title: Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

PubMed ID: 16239244

DOI: 10.1093/hmg/ddi393

PubMed ID: 16091420

Title: Extra-mitochondrial localisation of frataxin and its association with IscU1 during enterocyte-like differentiation of the human colon adenocarcinoma cell line Caco-2.

PubMed ID: 16091420

DOI: 10.1242/jcs.02516

PubMed ID: 15581888

Title: Supramolecular assemblies of human frataxin are formed via subunit-subunit interactions mediated by a non-conserved amino-terminal region.

PubMed ID: 15581888

DOI: 10.1016/j.jmb.2004.10.074

PubMed ID: 16608849

Title: A pool of extramitochondrial frataxin that promotes cell survival.

PubMed ID: 16608849

DOI: 10.1074/jbc.m511960200

PubMed ID: 17331979

Title: Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.

PubMed ID: 17331979

DOI: 10.1093/hmg/ddm038

PubMed ID: 21269460

Title: Initial characterization of the human central proteome.

PubMed ID: 21269460

DOI: 10.1186/1752-0509-5-17

PubMed ID: 21298097

Title: Mammalian frataxin: an essential function for cellular viability through an interaction with a preformed ISCU/NFS1/ISD11 iron-sulfur assembly complex.

PubMed ID: 21298097

DOI: 10.1371/journal.pone.0016199

PubMed ID: 24971490

Title: Human frataxin activates Fe-S cluster biosynthesis by facilitating sulfur transfer chemistry.

PubMed ID: 24971490

DOI: 10.1021/bi500532e

PubMed ID: 25944712

Title: N-terminome analysis of the human mitochondrial proteome.

PubMed ID: 25944712

DOI: 10.1002/pmic.201400617

PubMed ID: 26702583

Title: Mitochondrial Hspa9/Mortalin regulates erythroid differentiation via iron-sulfur cluster assembly.

PubMed ID: 26702583

DOI: 10.1016/j.mito.2015.12.005

PubMed ID: 29576242

Title: Interactions of iron-bound frataxin with ISCU and ferredoxin on the cysteine desulfurase complex leading to Fe-S cluster assembly.

PubMed ID: 29576242

DOI: 10.1016/j.jinorgbio.2018.03.007

PubMed ID: 10900192

Title: Crystal structure of human frataxin.

PubMed ID: 10900192

DOI: 10.1074/jbc.c000407200

PubMed ID: 10903947

Title: Towards a structural understanding of Friedreich's ataxia: the solution structure of frataxin.

PubMed ID: 10903947

DOI: 10.1016/s0969-2126(00)00158-1

PubMed ID: 31101807

Title: Structure of the human frataxin-bound iron-sulfur cluster assembly complex provides insight into its activation mechanism.

PubMed ID: 31101807

DOI: 10.1038/s41467-019-09989-y

PubMed ID: 9150176

Title: Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

PubMed ID: 9150176

PubMed ID: 9779809

Title: Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies.

PubMed ID: 9779809

DOI: 10.1002/(sici)1096-8628(19981012)79:5<396::aid-ajmg13>3.3.co;2-b

PubMed ID: 10732799

Title: The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene.

PubMed ID: 10732799

DOI: 10.1007/s100480050037

PubMed ID: 9989622

Title: Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes.

PubMed ID: 9989622

DOI: 10.1002/1531-8249(199902)45:2<200::aid-ana10>3.0.co;2-u

PubMed ID: 10874325

Title: A novel missense mutation (L198R) in the Friedreich's ataxia gene.

PubMed ID: 10874325

DOI: 10.1002/1098-1004(200007)16:1<95::aid-humu29>3.0.co;2-e

PubMed ID: 19629184

Title: The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.

PubMed ID: 19629184

DOI: 10.1371/journal.pone.0006379

Sequence Information:

  • Length: 210
  • Mass: 23135
  • Checksum: ECC81738779308CF
  • Sequence:
    • MWTLGRRAVA GLLASPSPAQ AQTLTRVPRP AELAPLCGRR GLRTDIDATC TPRRASSNQR 
GLNQIWNVKK QSVYLMNLRK SGTLGHPGSL DETTYERLAE ETLDSLAEFF EDLADKPYTF 
EDYDVSFGSG VLTVKLGGDL GTYVINKQTP NKQIWLSSPS SGPKRYDWTG KNWVYSHDGV 
SLHELLAAEL TKALKTKLDL SSLAYSGKDA

Database document:

This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.