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Details for messenger / hormone: frataxin, mitochondrial

EndoNet ID: ENH00974

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Synonyms

  • Fxn
  • FRDA
  • X25
  • friedreich ataxia protein
  • frataxin, mitochondrial

General information

  • Defects in FXN are the cause of Friedreich ataxia (FA), FA is an autosomal recessive, progressive degenerative disease characterized by neurodegeneration and cardiomyopathy. [1]
  • The genetic abnormality of FRDA causes the mitochondrial respiratory chain dysfunction, oxidative damage and iron accumulation,which play significant roles in the disease mechanism.

Classification

Hormone function

  • CNS function

Chemical classification

  • hormone
    • genome-encoded

Composition

frataxin, isoform1 (1 times)

  • In most patients, Friedreich ataxia is due to GAA triplet repeat expansions in the first intron of the frataxin gene. [1]
Sequence 
SSNQRGLNQ IWNVKKQSV YLMNLRKSG 
TLGHPGSLD ETTYERLAE ETLDSLAEF 
FEDLADKPY TFEDYDVSF GSGVLTVKL 
GGDLGTYVI NKQTPNKQI WLSSPSSGP 
KRYDWTGKN WVYSHDGVS LHELLAAEL 
TKALKTKLD LSSLAYSGK DA
UniProt Q16595-1

Links to other resources

UniProt Q16595
Ensembl ENST00000377270
KEGG hsa:2395

  • Anatomical structure: cerebellum

Targets

Cell
No records found.
Reference