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Gene : FXN Homo sapiens

Name  ? frataxin Cytological Location  9q21.11
Brief Description  frataxin
Description  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]
  • synonyms:
  • CyaY,
  • FARR,
  • OTTHUMG00000019977,
  • FA,
  • CyaY,
  • U43752,
  • FRDA,
  • FXN,
  • X25,
  • FRDA,
  • uc004aha.3,
  • NM_000144,
  • X25,
  • HGNC:3951,
  • Friedreich ataxia,
  • FARR,
  • FA
  • identifiers:
  • 2395,
  • ENSG00000165060,
  • FXN

Genome feature

Region: gene ? Length: 43325  
Location: 9:69035752-69079076 Cyto location: 9q21.11

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1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

Gene --> Alleles and Disease (clinVar data)

Gene -> HPO annotation (Human Phenotype Ontology)

Mouse Gene --> Allele [Phenotype]


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Gene Ontology

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708 SN Ps

5 Cross References

18 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results