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Sequence in raw or FASTA format:

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FXN frataxin [Homo sapiens (human)]


RefSeq Accession Definition Services Price Order
NM_000144 Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. ORF Sequence $183.57
Peptide Services
Antibody Services
Protein Services
NM_001161706 Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA. ORF Sequence $159.00
Peptide Services
Antibody Services
Protein Services
NM_181425 Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA. ORF Sequence $171.39
Peptide Services
Antibody Services
Protein Services


Gene Symbol FXN
Entrez Gene ID 2395
Full Name frataxin
Synonyms CyaY, FA, FARR, FRDA, MGC57199, X25
Gene Type protein-coding
Organism Homo sapiens (human)
Genome

9

9q21.11

Summary This nuclear gene encodes a mitochondrial protein which belongs to FRATAXIN family. The protein functions in regulating mitochondrial iron transport and respiration. The expansion of intronic trinucleotide repeat GAA results in Friedreich ataxia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2009].
Disorder

MIM: 606829

Friedreich ataxia, 229300 (3); Friedreich ataxia with retained

mRNA Protein Product Sequence Price Select
NM_000144, 239787167 NP_000135, 31077081 frataxin, mitochondrial isoform 1 preproprotein Full Length $3225.60
ORF Sequence $183.57
NM_001161706, 239787197 NP_001155178, 239787198 frataxin, mitochondrial isoform 3 preproprotein Full Length $284.20
ORF Sequence $159.00
NM_181425, 239787185 NP_852090, 31742516 frataxin, mitochondrial isoform 2 preproprotein Full Length $3229.20
ORF Sequence $171.39
Pathway Interaction Database
hif2pathwayHIF-2-alpha transcription factor network
Reactome
REACT_118595Mitochondrial Protein Import
REACT_17015Metabolism of proteins
Homo sapiens (human)FXNNP_000135.2
Pan troglodytes (chimpanzee)FXNXP_001137864.2
Macaca mulatta (Rhesus monkey)FXNXP_001093449.1
Canis lupus familiaris (dog)FXNNP_001103428.1
Bos taurus (cattle)FXNNP_001074196.1
Mus musculus (house mouse)FxnNP_032070.1
Rattus norvegicus (Norway rat)FxnXP_574642.1
Gallus gallus (chicken)FXNXP_424827.3
Danio rerio (zebrafish)fxnNP_001076485.1
Arabidopsis thaliana (thale cress)FHNP_192233.2
GeneCards FXN
PDB 3T3J, 3S5F, 3S5E, 3T3L, 1EKG, 3T3T, 3S5D, 1LY7, 3T3K, 3T3X, 3S4M
UniProt A8MXJ6, Q16595
MIM 606829
Ensembl ENSG00000165060
HGNC 3951
HPRD 06013

GeneRIFs: Gene References Into Functions What's a GeneRIF?

General protein information

Preferred Names
frataxin, mitochondrial
Names
frataxin, mitochondrial
Friedreich ataxia protein
NP_000135.2
NP_001155178.1
NP_852090.1

Interactant

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