full name
frataxin

synonyms
CyaY, FA, FARR, FRDA, X25, FXN, ENSG00000165060

HGNC
HGNC:3951

Entrez Gene
Gene:2395

ENSEMBL
ENSG00000165060

location
chr: 9
start: 71650479
stop: 71715094
strand: +

OMIM
OMIM:606829: FXN (Autosomal recessive inheritance)
OMIM:229300: Friedreich ataxia with retained reflexes
OMIM:229300: Friedreich ataxia

transcripts
NM_001161706.1
NM_181425.2
NM_000144.4

pathways
HIF-2-alpha transcription factor network [NCBI:137956] [Pathway Interaction Database:hif2pathway] [PUBMED:10671489] [PUBMED:11983697] [PUBMED:11823643] [PUBMED:15039136] [PUBMED:19352007] [PUBMED:18356544] [PUBMED:17097563] [PUBMED:16740701] [PUBMED:19541651] [PUBMED:17873906] [PUBMED:12080085] [PUBMED:11292862] [PUBMED:16510872] [PUBMED:19498162] [PUBMED:10353251] [PUBMED:18625704] [PUBMED:15247232] [PUBMED:9079689] [PUBMED:19204094] [PUBMED:17322295] [PUBMED:17804822] [PUBMED:9113979] [PUBMED:12464608] [PUBMED:18434321] [PUBMED:15592504] [PUBMED:10878807] [PUBMED:17324924] [PUBMED:15192019] [PUBMED:9000051] [PUBMED:16611993] [PUBMED:10823831]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of proteins [NCBI:1268677] [REACTOME:R-HSA-392499]
Mitochondrial iron-sulfur cluster biogenesis [NCBI:1270221] [REACTOME:R-HSA-1362409] [PUBMED:19675643] [PUBMED:19021507] [PUBMED:20873749] [PUBMED:20522547] [PUBMED:23906713] [PUBMED:20060739] [PUBMED:22382365] [PUBMED:22609301]
Mitochondrial protein import [NCBI:1268745] [REACTOME:R-HSA-1268020] [PUBMED:19720617] [PUBMED:20214493] [PUBMED:18174896] [PUBMED:17996737] [PUBMED:17998403] [PUBMED:17696772] [PUBMED:19453276] [PUBMED:19767391] [PUBMED:20100523]
Porphyrin and chlorophyll metabolism [NCBI:83021] [KEGG:hsa00860] [PUBMED:12195810] [PUBMED:11283349] [PUBMED:10217486] [PUBMED:11007789] [PUBMED:10518530] [PUBMED:12055304] [PUBMED:12196148] [PUBMED:17506685] [PUBMED:16245042] [PUBMED:23922391] [PUBMED:23042036] [PUBMED:9461500]