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This gene encodes a mitochondrial flavoprotein that initiates electron transport for cytochromes P450 receiving electrons from NADPH. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Apr 2012]
FDXR (Ferredoxin Reductase) is a Protein Coding gene. Diseases associated with FDXR include Auditory Neuropathy And Optic Atrophy and Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome. Among its related pathways are Cytochrome P450 - arranged by substrate type and Metabolism of steroid hormones. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ferredoxin-NADP+ reductase activity. An important paralog of this gene is DPYD.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0004324 | ferredoxin-NADP+ reductase activity | TAS | 2845396 |
GO:0015039 | NADPH-adrenodoxin reductase activity | IEA,IBA | 21873635 |
GO:0016491 | oxidoreductase activity | IEA,IBA | 21873635 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0005739 | mitochondrion | IEA,IDA | -- |
GO:0005743 | mitochondrial inner membrane | IEA | -- |
GO:0005759 | mitochondrial matrix | TAS | -- |
GO:0016020 | membrane | IEA | -- |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Cytochrome P450 - arranged by substrate type | ||
2 | Diseases of metabolism | ||
3 | Metabolism |
.40
|
|
4 | Metabolism of steroid hormones | ||
5 | HIV Life Cycle |
.45
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0006091 | generation of precursor metabolites and energy | TAS | 2845396 |
GO:0006629 | lipid metabolic process | IEA | -- |
GO:0006694 | steroid biosynthetic process | TAS | 1863359 |
GO:0006700 | C21-steroid hormone biosynthetic process | TAS | -- |
GO:0006744 | ubiquinone biosynthetic process | IBA | 21873635 |
ExUns: | 1a | · | 1b | · | 1c | · | 1d | · | 1e | ^ | 2a | · | 2b | ^ | 3a | · | 3b | ^ | 4 | ^ | 5 | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | · | 8d | ^ | 9 | ^ | 10a | · | 10b | · | 10c | ^ | 11a | · | 11b | ^ |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP2: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP3: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
SP4: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP5: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
SP6: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
SP7: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
SP8: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP9: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP10: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
SP11: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP12: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
SP13: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP14: | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||||
SP15: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
SP16: | - | - | - | - | - | - |
ExUns: | 12 | ^ | 13 | ^ | 14 | ^ | 15a | · | 15b |
---|---|---|---|---|---|---|---|---|---|
SP1: | |||||||||
SP2: | |||||||||
SP3: | |||||||||
SP4: | |||||||||
SP5: | |||||||||
SP6: | |||||||||
SP7: | |||||||||
SP8: | |||||||||
SP9: | |||||||||
SP10: | |||||||||
SP11: | |||||||||
SP12: | |||||||||
SP13: | |||||||||
SP14: | |||||||||
SP15: | |||||||||
SP16: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | FDXR 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | FDXR 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Fdxr 30 |
|
||
Mouse (Mus musculus) |
Mammalia | Fdxr 30 17 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | FDXR 30 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | FDXR 31 |
|
OneToOne | |
Oppossum (Monodelphis domestica) |
Mammalia | FDXR 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | FDXR 30 |
|
||
Lizard (Anolis carolinensis) |
Reptilia | FDXR 31 |
|
OneToOne | |
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | fdxr 30 |
|
||
Str.11467 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.8959 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | LOC100536115 30 |
|
||
fdxr 31 |
|
OneToOne | |||
Fruit Fly (Drosophila melanogaster) |
Insecta | dare 30 31 32 |
|
OneToOne | |
African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP005419 30 |
|
||
Worm (Caenorhabditis elegans) |
Secernentea | Y62E10A.6 31 32 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | ARH1 31 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT4G32360 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os02g0277600 30 |
|
||
Bread mold (Neurospora crassa) |
Ascomycetes | NCU08005 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | arh1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 17 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
689759 | Likely Pathogenic: Auditory neuropathy-optic atrophy syndrome | 74,864,922(-) | T/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
689760 | Likely Pathogenic: Auditory neuropathy-optic atrophy syndrome | 74,866,166(-) | C/T | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
730651 | Benign: not provided | 74,864,278(-) | G/A | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT | |
769224 | Benign: not provided | 74,866,908(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
769225 | Benign: not provided | 74,866,471(-) | T/C | MISSENSE_VARIANT,NON_CODING_TRANSCRIPT_VARIANT,INTRON_VARIANT |
Disorder | Aliases | PubMed IDs |
---|---|---|
auditory neuropathy and optic atrophy |
|
|
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome |
|
|
46,xy sex reversal |
|
|
autosomal recessive disease |
|
|
adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete |
|
|