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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]
FXN (Frataxin) is a Protein Coding gene. Diseases associated with FXN include Friedreich Ataxia and Hereditary Ataxia. Among its related pathways are Mitochondrial iron-sulfur cluster biogenesis and Metabolism. Gene Ontology (GO) annotations related to this gene include iron-sulfur cluster binding and ferrous iron binding.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004322 | ferroxidase activity | IBA,IDA | 15641778 |
GO:0005515 | protein binding | IPI | 15123683 |
GO:0008198 | ferrous iron binding | IBA,IDA | 12785837 |
GO:0008199 | ferric iron binding | IDA | 12785837 |
GO:0016491 | oxidoreductase activity | IEA | -- |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005623 | cell | IEA | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0005739 | mitochondrion | IDA | 17468497 |
GO:0005759 | mitochondrial matrix | NAS,TAS | -- |
GO:0005829 | cytosol | IDA | 17468497 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Porphyrin and chlorophyll metabolism | ||
2 | Metabolism |
.40
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3 | Metabolism of proteins | ||
4 | Mitochondrial iron-sulfur cluster biogenesis | ||
5 | Mitochondrial protein import |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006119 | oxidative phosphorylation | IEA | -- |
GO:0006783 | heme biosynthetic process | NAS | 15123683 |
GO:0006811 | ion transport | IEA | -- |
GO:0006879 | cellular iron ion homeostasis | IMP | 18160053 |
GO:0007005 | mitochondrion organization | IBA | 21873635 |
Name | Synonyms | Role | CAS Number | PubChem IDs | PubMed IDs | |
---|---|---|---|---|---|---|
Hydrogen Ion |
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ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5a | · | 5b | ^ | 6 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||
SP2: | - | ||||||||||||||||
SP3: | - | ||||||||||||||||
SP4: | - |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FXN 30 |
|
||
Cow (Bos Taurus) |
Mammalia | FXN 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FXN 30 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Fxn 30 17 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fxn 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | FXN 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FXN 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | FXN 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | LOC100497789 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | fxn 30 31 |
|
OneToOne | |
Fruit Fly (Drosophila melanogaster) |
Insecta | fh 31 |
|
OneToOne | |
Worm (Caenorhabditis elegans) |
Secernentea | frh-1 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | YFH1 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | FH 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0783600 30 |
|
SNP ID | Clinical significance and condition | Chr 09 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
804817 | Benign: not provided | 69,035,913(+) | C/A | MISSENSE_VARIANT | |
804818 | Uncertain Significance: not provided | 69,035,945(+) | G/A | MISSENSE_VARIANT | |
804819 | Uncertain Significance: not provided | 69,053,199(+) | AG/TT | MISSENSE_VARIANT | |
804820 | Conflicting Interpretations: not provided | 69,053,268(+) | T/C | INTRON_VARIANT | |
804821 | Benign: not provided | 69,035,823(+) | C/A | MISSENSE_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
friedreich ataxia |
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|
hereditary ataxia |
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autosomal recessive disease |
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vitamin e, familial isolated deficiency of |
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hemochromatosis, type 1 |
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