Property Summary

NCBI Gene PubMed Count 163
PubMed Score 1048.91
PubTator Score 825.21

Knowledge Summary


No data available


  Differential Expression (6)

Disease log2 FC p
osteosarcoma -1.034 0.023
atypical teratoid / rhabdoid tumor 1.100 0.000
medulloblastoma, large-cell 1.100 0.001
tuberculosis 1.200 0.000
pancreatic ductal adenocarcinoma liver m... -1.423 0.001
lung cancer 1.400 0.000


Accession Q16595 A8MXJ6 C9JJ89 O15545 O95656 Q15294 Q5VZ01
Symbols FA




5KZ5   1EKG   1LY7   3S4M   3S5D   3S5E   3S5F   3T3J   3T3K   3T3L   3T3T   3T3X  

  Ortholog (10)

Gene RIF (137)

26704351 In compound heterozygotes, expression of partially functional mutant frataxin delays age of onset and reduces diabetes mellitus, compared to those with no frataxin expression from the non-expanded allele.
26671574 Our results imply that regulation of FXN protein levels is complex and that total amounts can be modulated chemically and genetically without altering the absolute amount of mature FXN protein.
26393353 FXN promoter function was directly measured via metabolic labeling of newly synthesized transcripts in fibroblasts, which revealed that the YG8sR mouse was significantly deficient in transcriptional initiation compared to the Y47R mouse.
26379101 The region of chromosome 9 carrying the FXN gene is prone to chromosomal rearrangements in both control and Friedreich ataxia patient cells.
26035392 Engineered a cell line where the presence of an exogenous, inducible FXN gene rescues the cells from the knockout of the two endogenous FXN genes. This system allows the possibility of testing the progression of disease.
26016518 FXN accelerates a rate-limiting sulfur transfer step in the synthesis of [2Fe-2S] clusters on the human Fe-S assembly complex.
25948553 Thus, Src inhibitors emerge as a new class of drugs able to promote frataxin accumulation, suggesting their possible use as therapeutics in Friedreich's Ataxia
25929520 frataxin absence is associated with overexpression of cell death-related genes, cell cycle arrest and oxidative related genes, as well as DNMT1, supporting the notion that DNA repair and epigenetic mechanisms are implicated in Friedreich's ataxia disease.
25831023 We propose a model of premature termination of FXN transcription induced by pathogenic expanded GAA repeats that links R-loop structures, antisense transcription, and heterochromatin formation
25814655 Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells

AA Sequence


Text Mined References (166)

PMID Year Title
26871637 2016 Widespread Expansion of Protein Interaction Capabilities by Alternative Splicing.
26704351 2016 Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.
26671574 2015 Perturbation of cellular proteostasis networks identifies pathways that modulate precursor and intermediate but not mature levels of frataxin.
26393353 2015 FXN Promoter Silencing in the Humanized Mouse Model of Friedreich Ataxia.
26379101 2015 Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia.
26035392 2015 A new cellular model to follow Friedreich's ataxia development in a time-resolved way.
26016518 2015 Frataxin Accelerates [2Fe-2S] Cluster Formation on the Human Fe-S Assembly Complex.
26002199 2015 The Repeat Expansion Diseases: The dark side of DNA repair.
25948553 2015 Src inhibitors modulate frataxin protein levels.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.