FDXR Gene (Protein Coding)

Ferredoxin Reductase

GC17M074862
GIFtS:
46
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] See more...

Aliases for FDXR Gene

Aliases for FDXR Gene

  • Ferredoxin Reductase 2 3 4 5
  • Adrenodoxin Reductase 2 3 4
  • NADPH:Adrenodoxin Oxidoreductase, Mitochondrial 3 4
  • Adrenodoxin-NADP(+) Reductase 2 3
  • Ferredoxin--NADP(+) Reductase 3 4
  • ADXR 3 4
  • ADR 2 3
  • AR 3 4
  • Epididymis Secretory Sperm Binding Protein 3
  • EC 1.18.1.2 51
  • EC 1.18.1.6 4
  • ANOA 3
  • FDXR 5

External Ids for FDXR Gene

Previous HGNC Symbols for FDXR Gene

  • ADXR

Previous GeneCards Identifiers for FDXR Gene

  • GC17M072875
  • GC17M075917
  • GC17M073322
  • GC17M073455
  • GC17M070370
  • GC17M072858
  • GC17M068269

Summaries for FDXR Gene

Entrez Gene Summary for FDXR Gene

  • 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]

GeneCards Summary for FDXR Gene

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 HIV Life Cycle and Diseases of metabolism. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity and ferredoxin-NADP+ reductase activity. An important paralog of this gene is DPYD.

UniProtKB/Swiss-Prot Summary for FDXR Gene

  • Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver.

Gene Wiki entry for FDXR Gene

Additional gene information for FDXR Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FDXR Gene

Genomics for FDXR Gene

GeneHancer (GH) Regulatory Elements Pubs

Download GeneHancer 2017 data
Promoters and enhancers for FDXR Gene
GeneHancer (GH) Identifier GH Type GH
Score		 GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites		 Gene Targets
GH17J074871 Promoter/Enhancer 2.4 EPDnew Ensembl ENCODE CraniofacialAtlas dbSUPER 269.3 -2.1 -2069 7.8 CHD2 TBP ZBTB10 SP1 MXD4 FEZF1 CEBPA MNT IKZF1 SMAD5 FDXR UNK NT5C GRIN2C NUP85 lnc-FADS6-1 FADS6
GH17J074864 Enhancer 1.1 Ensembl ENCODE dbSUPER 19.2 +7.8 7775 1.1 CEBPA MNT DEK CTCF CEBPB REST NBN TRIM22 MAFF ZNF341 HSALNG0118691 FDXR GRIN2C lnc-FADS6-1
GH17J074868 Enhancer 1.1 Ensembl dbSUPER 19.1 +4.2 4231 0.8 MNT IKZF1 BHLHE40 ARNT VEZF1 NBN TRIM25 ZNF341 ZEB2 GABPA FDXR GRIN2C GGA3 ENSG00000270993 HSALNG0118691 lnc-FADS6-1
GH17J074840 Enhancer 1.1 ENCODE CraniofacialAtlas dbSUPER 11.4 +31.1 31114 2.9 CTCF BHLHE40 ZIC2 REST ZNF740 VEZF1 ZNF341 GABPB1 RAD21 SPI1 piR-44944 GRIN2C FDXR FADS6 lnc-SLC9A3R1-4 TMEM104
GH17J074791 Enhancer 0.9 ENCODE 11.3 +81.4 81384 0.2 SP1 MNT DEK ZNF217 CTCF BHLHE40 THAP11 ARNT SIN3A REST GRIN2C FDXR FADS6 OTOP3 HSALNG0118685 RF00017-2541 TMEM104
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around FDXR on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FDXR

Top Transcription factor binding sites by QIAGEN in the FDXR gene promoter:
  • AREB6
  • E47
  • HNF-4alpha1
  • HNF-4alpha2
  • ITF-2
  • MZF-1
  • NRSF form 1
  • NRSF form 2
  • SEF-1 (1)
  • Tal-1beta

Genomic Locations for FDXR Gene

Latest Assembly
chr17:74,862,497-74,873,031
(GRCh38/hg38)
Size:
10,535 bases
Orientation:
Minus strand

Previous Assembly
chr17:72,858,619-72,869,119
(GRCh37/hg19 by Entrez Gene)
Size:
10,501 bases
Orientation:
Minus strand

chr17:72,858,619-72,869,156
(GRCh37/hg19 by Ensembl)
Size:
10,538 bases
Orientation:
Minus strand

Genomic View for FDXR Gene

Genes around FDXR on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
FDXR Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for FDXR Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for FDXR Gene

Proteins for FDXR Gene

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  • Protein details for FDXR Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P22570-ADRO_HUMAN
    Recommended name:
    NADPH:adrenodoxin oxidoreductase, mitochondrial
    Protein Accession:
    P22570
    Secondary Accessions:
    • B4DDI7
    • B4DHX5
    • B4DQQ4
    • B4DX24
    • B7Z7G2
    • E7EQC1
    • Q13716
    • Q4PJI0
    • Q9BU12

    Protein attributes for FDXR Gene

    Size:
    491 amino acids
    Molecular mass:
    53837 Da
    Cofactor:
    Name=FAD; Xref=ChEBI:CHEBI:57692;
    Quaternary structure:
    • Monomer. Interacts directly with FDX1.
    Miscellaneous:
    • [Isoform Long]: Represents 10-20% of all adrenodoxin reductase mRNAs and seems to be inactive.

    Alternative splice isoforms for FDXR Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for FDXR Gene

Protein Expression for FDXR Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Selected DME Specific Peptides for FDXR Gene

P22570:
  • VGRRGPLQ
  • PVSFSDWEK
  • SARAFVGWYNGLPEN
  • GNVALDVAR
  • FTIKELRE
  • GPAGFYTAQHL
  • GLYCSGWVKRGPTGVI
  • IPGEELPGV
  • GVAPDHP
  • AHVDIYEKQ

Post-translational modifications for FDXR Gene

  • Ubiquitination at Lys209
  • Modification sites at PhosphoSitePlus

Other Protein References for FDXR Gene

ENSEMBL proteins:
REFSEQ proteins:

Domains & Families for FDXR Gene

Gene Families for FDXR Gene

HGNC:
Human Protein Atlas (HPA):
  • Disease related genes
  • Enzymes
  • Potential drug targets
  • Predicted intracellular proteins

Protein Domains for FDXR Gene

InterPro:
Blocks:
  • Adrenodoxin reductase family signature
  • FAD-dependent pyridine nucleotide reductase signature
ProtoNet:

Suggested Antigen Peptide Sequences for FDXR Gene

GenScript: Design optimal peptide antigens:
  • Ferredoxin--NADP(+) reductase (ADRO_HUMAN)
  • cDNA FLJ53329, highly similar to NADPH:adrenodoxin oxidoreductase, mitochondrial (EC 1.18.1.2) (B4DHX5_HUMAN)
  • cDNA FLJ59386, highly similar to NADPH:adrenodoxin oxidoreductase, mitochondrial (EC 1.18.1.2) (B4DQQ4_HUMAN)
  • cDNA FLJ54567, highly similar to NADPH:adrenodoxin oxidoreductase, mitochondrial (EC 1.18.1.2) (B7Z7G2_HUMAN)
  • Ferredoxin reductase, isoform CRA_e (Q6GSK2_HUMAN)

Graphical View of Domain Structure for InterPro Entry

P22570

UniProtKB/Swiss-Prot:

ADRO_HUMAN :
  • Belongs to the ferredoxin--NADP reductase type 1 family.
Family:
  • Belongs to the ferredoxin--NADP reductase type 1 family.
genes like me logo Genes that share domains with FDXR: view

Function for FDXR Gene

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  6. Cell Lines for research

Molecular function for FDXR Gene

UniProtKB/Swiss-Prot Function:
Serves as the first electron transfer protein in all the mitochondrial P450 systems including cholesterol side chain cleavage in all steroidogenic tissues, steroid 11-beta hydroxylation in the adrenal cortex, 25-OH-vitamin D3-24 hydroxylation in the kidney, and sterol C-27 hydroxylation in the liver.
UniProtKB/Swiss-Prot CatalyticActivity:
Reaction=H(+) + NADP(+) + 2 reduced [adrenodoxin] = NADPH + 2 oxidized [adrenodoxin]; Xref=Rhea:RHEA:42312, Rhea:RHEA-COMP:9998, Rhea:RHEA-COMP:9999, ChEBI:CHEBI:15378, ChEBI:CHEBI:33737, ChEBI:CHEBI:33738, ChEBI:CHEBI:57783, ChEBI:CHEBI:58349; EC=1.18.1.6; Evidence={ECO:0000250|UniProtKB:P08165};.
GENATLAS Biochemistry:
ferredoxin oxidoreductase,electron transport flavoprotein for mitochondrial P450s

Enzyme Numbers (IUBMB) for FDXR Gene

Phenotypes From GWAS Catalog for FDXR Gene

Gene Ontology (GO) - Molecular Function for FDXR Gene

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
genes like me logo Genes that share ontologies with FDXR: view
genes like me logo Genes that share phenotypes with FDXR: view

Human Phenotype Ontology for FDXR Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for research

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDXR

Clone products for research

  • Addgene plasmids for FDXR

No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FDXR Gene

Localization for FDXR Gene

Subcellular locations from UniProtKB/Swiss-Prot for FDXR Gene

Mitochondrion inner membrane. Peripheral membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for FDXR gene
Compartment Confidence
mitochondrion 5
nucleus 3
endoplasmic reticulum 2
cytosol 2
plasma membrane 1
extracellular 1
cytoskeleton 1
peroxisome 1
lysosome 1
golgi apparatus 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Mitochondria (4)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for FDXR Gene

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 --
genes like me logo Genes that share ontologies with FDXR: view

Pathways & Interactions for FDXR Gene

genes like me logo Genes that share pathways with FDXR: view

UniProtKB/Swiss-Prot P22570-ADRO_HUMAN

  • Pathway: Steroid metabolism; cholesterol metabolism.

Gene Ontology (GO) - Biological Process for FDXR Gene

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
genes like me logo Genes that share ontologies with FDXR: view

No data available for SIGNOR curated interactions for FDXR Gene

Drugs & Compounds for FDXR Gene

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(13) Drugs for FDXR Gene - From: DrugBank, HMDB, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
FAD Approved Pharma Target 0
NADP Experimental Pharma Target 0
NADPH Experimental Pharma 0

(16) Additional Compounds for FDXR Gene - From: HMDB and Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
Hydrogen Ion
  • H+
  • H(+)
  • Hydron
  • Hydrogen cation
  • Proton
genes like me logo Genes that share compounds with FDXR: view

Transcripts for FDXR Gene

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mRNA/cDNA for FDXR Gene

7 REFSEQ mRNAs :
19 NCBI additional mRNA sequence :
20 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FDXR

Clone products for research

  • Addgene plasmids for FDXR

Alternative Splicing Database (ASD) splice patterns (SP) for FDXR Gene

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:

Relevant External Links for FDXR Gene

GeneLoc Exon Structure for
FDXR

Expression for FDXR Gene

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  1. Primer products for research
  2. Gene Expression Assays for research

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for FDXR Gene

mRNA expression in normal human tissues for FDXR Gene
mRNA expression by GTEx for FDXR GenemRNA expression by BioGPS for FDXR Gene

mRNA differential expression in normal tissues according to GTEx for FDXR Gene

This gene is overexpressed in Adrenal Gland (x20.5).

Protein differential expression in normal tissues from HIPED for FDXR Gene

This gene is overexpressed in Adrenal (29.0), Fetal testis (12.5), and Testis (12.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FDXR Gene



Protein tissue co-expression partners for FDXR Gene

- Elite partner

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FDXR

SOURCE GeneReport for Unigene cluster for FDXR Gene:

Hs.69745

Evidence on tissue expression from TISSUES for FDXR Gene

  • Nervous system(4.7)
  • Adrenal gland(4.7)
  • Lung(4.6)
  • Liver(4.5)
  • Kidney(2.4)
  • Skin(2.3)
  • Heart(2.1)
genes like me logo Genes that share expression patterns with FDXR: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for FDXR Gene

Orthologs for FDXR Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for FDXR Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
 Mammalia FDXR 30 31
  • 97.39 (n)
 OneToOne
Dog
(Canis familiaris)
 Mammalia FDXR 30 31
  • 88.93 (n)
 OneToOne
Rat
(Rattus norvegicus)
 Mammalia Fdxr 30
  • 85.88 (n)
Mouse
(Mus musculus)
 Mammalia Fdxr 30 17 31
  • 85.74 (n)
 OneToOne
Cow
(Bos Taurus)
 Mammalia FDXR 30 31
  • 83.95 (n)
 OneToOne
Platypus
(Ornithorhynchus anatinus)
 Mammalia FDXR 31
  • 75 (a)
 OneToOne
Oppossum
(Monodelphis domestica)
 Mammalia FDXR 31
  • 72 (a)
 OneToOne
Chicken
(Gallus gallus)
 Aves FDXR 30
  • 68.84 (n)
Lizard
(Anolis carolinensis)
 Reptilia FDXR 31
  • 65 (a)
 OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
 Amphibia fdxr 30
  • 67.58 (n)
Str.11467 30
African clawed frog
(Xenopus laevis)
 Amphibia Xl.8959 30
Zebrafish
(Danio rerio)
 Actinopterygii LOC100536115 30
  • 63.14 (n)
fdxr 31
  • 59 (a)
 OneToOne
Fruit Fly
(Drosophila melanogaster)
 Insecta dare 30 31 32
  • 55.84 (n)
 OneToOne
African malaria mosquito
(Anopheles gambiae)
 Insecta AgaP_AGAP005419 30
  • 53.64 (n)
Worm
(Caenorhabditis elegans)
 Secernentea Y62E10A.6 31 32
  • 36 (a)
 OneToOne
Baker's yeast
(Saccharomyces cerevisiae)
 Saccharomycetes ARH1 31 33
  • 34 (a)
 OneToOne
Thale Cress
(Arabidopsis thaliana)
 eudicotyledons AT4G32360 30
  • 51 (n)
Rice
(Oryza sativa)
 Liliopsida Os02g0277600 30
  • 52.68 (n)
Bread mold
(Neurospora crassa)
 Ascomycetes NCU08005 30
  • 53.08 (n)
Fission Yeast
(Schizosaccharomyces pombe)
 Schizosaccharomycetes arh1 30
  • 46.02 (n)
Sea Squirt
(Ciona savignyi)
 Ascidiacea -- 31
  • 41 (a)
 OneToOne
Species where no ortholog for FDXR was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for FDXR Gene

ENSEMBL:
Gene Tree for FDXR (if available)
TreeFam:
Gene Tree for FDXR (if available)
Aminode:
Evolutionary constrained regions (ECRs) for FDXR: view image

Paralogs for FDXR Gene

Paralogs for FDXR Gene

genes like me logo Genes that share paralogs with FDXR: view

Variants for FDXR Gene

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Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FDXR Gene

SNP ID Clinical significance and condition Chr 17 pos Variation AA Info Type
872327 Uncertain Significance: not provided 74,863,142(-) C/A
NM_024417.5(FDXR):c.1279G>T (p.Ala427Ser) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
983267 Likely Pathogenic: Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome; Inborn genetic diseases 74,866,175(-) G/A
NM_024417.5(FDXR):c.463C>T (p.Arg155Trp) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
985142 Uncertain Significance: Inborn genetic diseases 74,866,806(-) G/A
NM_024417.5(FDXR):c.248C>T (p.Ala83Val) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
985143 Uncertain Significance: Inborn genetic diseases 74,865,723(-) A/C
NM_024417.5(FDXR):c.605T>G (p.Leu202Arg) 		MISSENSE_VARIANT,NON_CODING_TRANSCRIPT
986189 Likely Pathogenic: Inborn genetic diseases 74,866,245(-) C/G
NM_024417.5(FDXR):c.394-1G>C 		SPLICE_ACCEPTOR

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for FDXR Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for FDXR Gene

Variant ID Type Subtype PubMed ID
nsv518292 CNV loss 19592680
nsv833540 CNV loss 17160897
nsv952367 CNV deletion 24416366

Variation tolerance for FDXR Gene

Residual Variation Intolerance Score: 97.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 7.80; 83.41% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for FDXR Gene

Human Gene Mutation Database (HGMD)
FDXR
SNPedia medical, phenotypic, and genealogical associations of SNPs for
FDXR

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FDXR Gene

Disorders for FDXR Gene

MalaCards: The human disease database

(11) MalaCards diseases for FDXR Gene - From: OMI, CVR, GTR, ORP, SWI, COP, and GCD

- elite association - COSMIC cancer census association via MalaCards
Search FDXR in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ADRO_HUMAN
  • Auditory neuropathy and optic atrophy (ANOA) [MIM:617717]: An autosomal recessive disease characterized by hearing loss, visual impairment and optic atrophy, with onset in the first or second decades of life. Optic atrophy is caused by degeneration of nerve fibers which arise in the retina and converge to form the optic disk, optic nerve, optic chiasm and optic tracts. {ECO:0000269 PubMed:28965846}. Note=The disease is caused by variants affecting the gene represented in this entry.

Additional Disease Information for FDXR

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
Atlas
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
Open Targets Platform
Open Targets Platform
genes like me logo Genes that share disorders with FDXR: view

No data available for Genatlas for FDXR Gene

Publications for FDXR Gene

  1. FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases. (PMID: 28965846) Paul A … Marlin S (American journal of human genetics 2017) 3 4 74
  2. Cloning and sequence of the human adrenodoxin reductase gene. (PMID: 2236061) Lin D … Miller WL (Proceedings of the National Academy of Sciences of the United States of America 1990) 3 4 23
  3. Human adrenodoxin reductase: two mRNAs encoded by a single gene on chromosome 17cen----q25 are expressed in steroidogenic tissues. (PMID: 2845396) Solish SB … Miller WL (Proceedings of the National Academy of Sciences of the United States of America 1988) 2 3 4
  4. Both human ferredoxins 1 and 2 and ferredoxin reductase are important for iron-sulfur cluster biogenesis. (PMID: 22101253) Shi Y … Rouault TA (Biochimica et biophysica acta 2012) 2 3
  5. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41

ExternalLinks

View latest publications for FDXR gene in Mastermind

Products for FDXR Gene

  • Addgene plasmids for FDXR

Sources for FDXR Gene