Free for academic non-profit institutions. Other users need a Commercial license
This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gen... See more...
Aliases for FOXRED1 Gene
Aliases for FOXRED1 Gene
External Ids for FOXRED1 Gene
- HGNC: 26927
- Entrez Gene: 55572
- Ensembl: ENSG00000110074
- OMIM: 613622
- UniProtKB: Q96CU9
Previous GeneCards Identifiers for FOXRED1 Gene
- GC11P125645
- GC11P126139
- GC11P122081
Summaries for FOXRED1 Gene
-
This gene encodes a protein that contains a FAD-dependent oxidoreductase domain. The encoded protein is localized to the mitochondria and may function as a chaperone protein required for the function of mitochondrial complex I. Mutations in this gene are associated with mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Dec 2010]
GeneCards Summary for FOXRED1 Gene
FOXRED1 (FAD Dependent Oxidoreductase Domain Containing 1) is a Protein Coding gene. Diseases associated with FOXRED1 include Mitochondrial Complex I Deficiency, Nuclear Type 19 and Mitochondrial Complex I Deficiency, Nuclear Type 1. Gene Ontology (GO) annotations related to this gene include oxidoreductase activity. An important paralog of this gene is DMGDH.
UniProtKB/Swiss-Prot Summary for FOXRED1 Gene
-
Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554).
Additional gene information for FOXRED1 Gene
- HGNC(26927)
- Entrez Gene(55572)
- Ensembl(ENSG00000110074)
- OMIM(613622)
- UniProtKB(Q96CU9)
- Open Targets Platform(ENSG00000110074)
- Monarch Initiative
- Search for FOXRED1 at DataMed
- Search for FOXRED1 at HumanCyc
No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for FOXRED1 Gene
Genomics for FOXRED1 Gene
GeneHancer (GH) Regulatory Elements Pubs
Promoters and enhancers for FOXRED1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association
Download GeneHancer data from 2017 publication |
Request up-to-date GeneHancer data (full dataset)
GeneHancers around FOXRED1 on the GeneHancer Hub at the UCSC Golden Path
Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for FOXRED1
- Top Transcription factor binding sites by QIAGEN in the FOXRED1 gene promoter:
-
- Brachyury
- c-Ets-1
- CUTL1
- FOXI1
- HFH-3
- HOXA3
- HSF1 (long)
- HSF1short
- IRF-7A
Genomic Locations for FOXRED1 Gene
Genomic Locations for FOXRED1 Gene
- chr11:126,269,043-126,278,132
- (GRCh38/hg38)
- Size:
- 9,090 bases
- Orientation:
- Plus strand
- chr11:126,138,935-126,148,027
- (GRCh37/hg19)
- Size:
- 9,093 bases
- Orientation:
- Plus strand
Genomic View for FOXRED1 Gene
Genes around FOXRED1 on UCSC Golden Path with GeneCards custom track
- Cytogenetic band:
-
- 11q24.2 by HGNC
- 11q24.2 by Entrez Gene
- 11q24.2 by Ensembl
FOXRED1 Gene in genomic location: bands according to
Ensembl, locations according to GeneLoc
(and/or Entrez Gene and/or Ensembl if different)
Genomic Neighborhood
• Exon Structure
• Gene Density
RefSeq DNA sequence for FOXRED1 Gene
Proteins for FOXRED1 Gene
-
Protein details for FOXRED1 Gene (UniProtKB/Swiss-Prot)
- Protein Symbol:
- Q96CU9-FXRD1_HUMAN
- Recommended name:
- FAD-dependent oxidoreductase domain-containing protein 1
- Protein Accession:
- Q96CU9
- B3KN84
- B4DHU2
- Q71MG0
- Q9BU39
- Q9UKY9
Protein attributes for FOXRED1 Gene
- Size:
- 486 amino acids
- Molecular mass:
- 53812 Da
- Cofactor:
- Name=FAD; Xref=ChEBI:CHEBI:57692;
- Quaternary structure:
-
- Associates with components of the mitochondrial respiratory chain complex I.
Protein Expression for FOXRED1 Gene
Post-translational modifications for FOXRED1 Gene
Other Protein References for FOXRED1 Gene
Antibody Products
-
Custom Antibody ServicesOriGene Antibodies for FOXRED1
- Novus Biologicals Antibodies for FOXRED1
- Invitrogen Antibodies for FOXRED1 (AFLGC-FOXRED1)
-
Santa Cruz Biotechnology (SCBT) Antibodies for FOXRED1
- Sino Biological Antibodies for FOXRED1
Protein Products
-
OriGene Purified Proteins for FOXRED1
- Search Origene for MassSpec and Protein Over-expression Lysates for FOXRED1
- Origene Custom Protein Services for FOXRED1
- antibodies-online: Show 3 available FOXRED1 Proteins ranked by validation data
- Compare Top FOXRED1 Proteins
-
Quality Products:
-
Abcam proteins for FOXRED1
No data available for DME Specific Peptides for FOXRED1 Gene
Domains & Families for FOXRED1 Gene
Gene Families for FOXRED1 Gene
- HGNC:
- Human Protein Atlas (HPA):
-
- Disease related genes
- Predicted intracellular proteins
Protein Domains for FOXRED1 Gene
- InterPro:
- ProtoNet:
Suggested Antigen Peptide Sequences for FOXRED1 Gene
- GenScript: Design optimal peptide antigens:
-
- cDNA FLJ52799 (B4DXM1_HUMAN)
- FAD-dependent oxidoreductase domain-containing protein 1 (FXRD1_HUMAN)
No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for FOXRED1 Gene
Function for FOXRED1 Gene
Molecular function for FOXRED1 Gene
- UniProtKB/Swiss-Prot Function:
- Required for the assembly of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) (PubMed:20858599, PubMed:25678554). Involved in mid-late stages of complex I assembly (PubMed:25678554).
Enzyme Numbers (IUBMB) for FOXRED1 Gene
Phenotypes From GWAS Catalog for FOXRED1 Gene
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0016491 | oxidoreductase activity | IBA | 21873635 |
Phenotypes for FOXRED1 Gene
- MGI mutant phenotypes for FOXRED1:
- inferred from 1 alleles
- GenomeRNAi human phenotypes for FOXRED1:
Animal Model Products
-
Taconic Biosciences Mouse Models for FOXRED1
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXRED1 - Select products 50% OFF >
- * FOXRED1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FOXRED1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXRED1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXRED1
miRNA for FOXRED1 Gene
- miRTarBase miRNAs that target FOXRED1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXRED1
- Browse OriGene Inhibitory RNA Products For FOXRED1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXRED1
Clone Products
- Applied Biological Materials (abm): Clones for FOXRED1 - Select products 50% OFF >
- * FOXRED1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FOXRED1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXRED1
Cell Line Products
-
Horizon Cell Lines for FOXRED1
No data available for Animal Models , Transcription Factor Targets and HOMER Transcription for FOXRED1 Gene
Localization for FOXRED1 Gene
Subcellular locations from UniProtKB/Swiss-Prot for FOXRED1 Gene
- Mitochondrion inner membrane. Single-pass membrane protein. Note=According to a report, it is associated with the matrix face of the mitochondrial inner membrane and does not contain any transmembrane region. However, one transmembrane domain is clearly predicted by different methods (Probable). {ECO:0000305 PubMed:25678554}.
| Compartment | Confidence |
|---|---|
| mitochondrion | 5 |
| nucleus | 2 |
| cytosol | 1 |
- Mitochondria (3)
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0005737 | cytoplasm | IBA | 21873635 |
| GO:0005739 | mitochondrion | IEA,IDA | 20858599 |
| GO:0005743 | mitochondrial inner membrane | IEA,IDA | 25678554 |
| GO:0005747 | mitochondrial respiratory chain complex I | IMP | 20858599 |
| GO:0016020 | membrane | IEA | -- |
Pathways & Interactions for FOXRED1 Gene
Interacting Proteins for FOXRED1 Gene
GPS-Prot Interaction Network for FOXRED1
| GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|---|---|---|
| GO:0032981 | mitochondrial respiratory chain complex I assembly | IMP | 25678554 |
| GO:0055114 | oxidation-reduction process | IEA | -- |
No data available for Pathways by source and SIGNOR curated interactions for FOXRED1 Gene
Drugs & Compounds for FOXRED1 Gene
| Name | Status | Disease Links | Group | Role | Mechanism of Action | Clinical Trials |
|---|---|---|---|---|---|---|
| FAD | Approved | Pharma | 0 |
Transcripts for FOXRED1 Gene
mRNA/cDNA for FOXRED1 Gene
- 1 REFSEQ mRNAs :
- 13 NCBI additional mRNA sequence :
- 18 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :
-
- ENST00000263578 1951 nts (view in UCSC)
- ENST00000524751 895 nts (view in UCSC)
- ENST00000525083 1228 nts (view in UCSC)
- ENST00000525770 1427 nts (view in UCSC)
- ENST00000526366 553 nts (view in UCSC)
CRISPR Products
- Applied Biological Materials (abm): CRISPR Clones for FOXRED1 - Select products 50% OFF >
- * FOXRED1 CRISPR as ready-to-use vector or virus: ORF | Lenti- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
-
OriGene CRISPR knockouts for FOXRED1
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXRED1
-
Santa Cruz Biotechnology (SCBT) CRISPR for FOXRED1
miRNA Products
Inhibitory RNA Products
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXRED1
- Browse OriGene Inhibitory RNA Products For FOXRED1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXRED1
Clone Products
- Applied Biological Materials (abm): Clones for FOXRED1 - Select products 50% OFF >
- * FOXRED1 as ready-to-use vector or virus: ORF | Lenti- | Retro- | Adeno- | AAV- | Protein Vector - Browse All
- * Gene synthesis, site-directed mutagenesis, subcloning, and more services - Browse All
- Sino Biological Human cDNA Clone for FOXRED1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXRED1
| ExUns: | 1a | · | 1b | · | 1c | · | 1d | ^ | 2a | · | 2b | · | 2c | ^ | 3a | · | 3b | · | 3c | · | 3d | · | 3e | ^ | 4 | ^ | 5a | · | 5b | ^ | 6a | · | 6b | ^ | 7a | · | 7b | · | 7c | ^ | 8a | · | 8b | · | 8c | ^ | 9 | ^ | 10 | ^ | 11a | · |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||
| SP2: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP3: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP4: | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||
| SP5: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP6: | - | - | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||
| SP7: | - | - | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||
| SP8: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||
| SP9: | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||
| SP10: | - | - | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||
| SP11: | - | - | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||
| SP12: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP13: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP14: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP15: | - | - | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||
| SP16: | - | - | - | - | - | - | ||||||||||||||||||||||||||||||||||||||||||||||
| SP17: | - | |||||||||||||||||||||||||||||||||||||||||||||||||||
| SP18: | - | - | - | |||||||||||||||||||||||||||||||||||||||||||||||||
| SP19: | ||||||||||||||||||||||||||||||||||||||||||||||||||||
| SP20: | - | - | - |
| ExUns: | 11b | · | 11c | ^ | 12a | · | 12b | · | 12c | · | 12d | ^ | 13a | · | 13b | ^ | 14a | · | 14b |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SP1: | - | ||||||||||||||||||
| SP2: | |||||||||||||||||||
| SP3: | |||||||||||||||||||
| SP4: | |||||||||||||||||||
| SP5: | |||||||||||||||||||
| SP6: | |||||||||||||||||||
| SP7: | |||||||||||||||||||
| SP8: | |||||||||||||||||||
| SP9: | |||||||||||||||||||
| SP10: | |||||||||||||||||||
| SP11: | |||||||||||||||||||
| SP12: | |||||||||||||||||||
| SP13: | |||||||||||||||||||
| SP14: | |||||||||||||||||||
| SP15: | |||||||||||||||||||
| SP16: | |||||||||||||||||||
| SP17: | |||||||||||||||||||
| SP18: | |||||||||||||||||||
| SP19: | |||||||||||||||||||
| SP20: |
Relevant External Links for FOXRED1 Gene
- GeneLoc Exon Structure for
- FOXRED1
Expression for FOXRED1 Gene
This gene is overexpressed in Breast (59.5).
Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for FOXRED1 Gene
Transcriptomic regulation report from SPP (The Signaling Pathways Project) for FOXRED1
SOURCE GeneReport for Unigene cluster for FOXRED1 Gene:
Hs.317190Evidence on tissue expression from TISSUES for FOXRED1 Gene
- Nervous system(4.9)
- Liver(4.5)
- Lung(4.2)
- Blood(2.4)
- Muscle(2)
Phenotype-based relationships between genes and organs from Gene ORGANizer for FOXRED1 Gene
Germ Layers:
- ectoderm
- endoderm
- mesoderm
Systems:
- cardiovascular
- digestive
- endocrine
- integumentary
- nervous
- respiratory
- skeletal muscle
- skeleton
Regions:
Head and neck:
- brain
- cerebellum
- cerebrospinal fluid
- cranial nerve
- ear
- eye
- eyelid
- face
- head
- meninges
- neck
- skull
Thorax:
- esophagus
- heart
- heart valve
- lung
Abdomen:
- adrenal gland
- liver
- stomach
Limb:
- foot
- lower limb
General:
- hair
- peripheral nerve
- peripheral nervous system
- skin
- spinal cord
- sweat gland
Primer Products
-
OriGene qPCR primer pairs for FOXRED1
-
OriGene qPCR primer pairs and template standards for FOXRED1
Gene Expression Assay Products
No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for FOXRED1 Gene
Orthologs for FOXRED1 Gene
This gene was present in the common ancestor of animals.
| Organism | Taxonomy | Gene | Similarity | Type | Details |
|---|---|---|---|---|---|
| Chimpanzee (Pan troglodytes) |
Mammalia | FOXRED1 30 31 |
|
OneToOne | |
| Dog (Canis familiaris) |
Mammalia | FOXRED1 30 31 |
|
OneToOne | |
| Cow (Bos Taurus) |
Mammalia | FOXRED1 30 31 |
|
OneToOne | |
| Mouse (Mus musculus) |
Mammalia | Foxred1 30 17 31 |
|
OneToOne | |
| Platypus (Ornithorhynchus anatinus) |
Mammalia | -- 31 |
|
OneToMany | |
| -- 31 |
|
OneToMany | |||
| -- 31 |
|
OneToMany | |||
| Oppossum (Monodelphis domestica) |
Mammalia | FOXRED1 31 |
|
OneToOne | |
| Chicken (Gallus gallus) |
Aves | FOXRED1 30 31 |
|
OneToOne | |
| Lizard (Anolis carolinensis) |
Reptilia | FOXRED1 31 |
|
OneToOne | |
| Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | foxred1 30 |
|
||
| Str.16899 30 |
|
||||
| Zebrafish (Danio rerio) |
Actinopterygii | foxred1 30 31 |
|
OneToOne | |
| Dr.11804 30 |
|
||||
| African malaria mosquito (Anopheles gambiae) |
Insecta | AgaP_AGAP009080 30 |
|
||
| Fruit Fly (Drosophila melanogaster) |
Insecta | l(2)37Bb 30 31 |
|
OneToMany | |
| CG3270 31 |
|
OneToMany | |||
| Worm (Caenorhabditis elegans) |
Secernentea | CELE_M04B2.4 30 |
|
||
| M04B2.4 31 |
|
OneToOne | |||
| Sea Squirt (Ciona savignyi) |
Ascidiacea | -- 31 |
|
OneToOne |
- Species where no ortholog for FOXRED1 was found in the sources mined by GeneCards:
-
- A. gosspyii yeast (Eremothecium gossypii)
- Actinobacteria (Mycobacterium tuberculosis)
- African clawed frog (Xenopus laevis)
- Alicante grape (Vitis vinifera)
- Alpha proteobacteria (Wolbachia pipientis)
- Amoeba (Dictyostelium discoideum)
- Archea (Pyrococcus horikoshii)
- Baker's yeast (Saccharomyces cerevisiae)
- Barley (Hordeum vulgare)
- Beta proteobacteria (Neisseria meningitidis)
- Bread mold (Neurospora crassa)
- Chromalveolata (Phytophthora infestans)
- Common water flea (Daphnia pulex)
- Corn (Zea mays)
- E. coli (Escherichia coli)
- Filamentous fungi (Aspergillus nidulans)
- Firmicute Bacteria (Streptococcus pneumoniae)
- Fission Yeast (Schizosaccharomyces pombe)
- 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)
- Rat (Rattus norvegicus)
- Rice (Oryza sativa)
- 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)
- Thale Cress (Arabidopsis thaliana)
- Tomato (Lycopersicon esculentum)
- Toxoplasmosis (Toxoplasma gondii)
- Trichoplax (Trichoplax adhaerens)
- Wheat (Triticum aestivum)
Evolution for FOXRED1 Gene
- ENSEMBL:
- Gene Tree for FOXRED1 (if available)
- TreeFam:
- Gene Tree for FOXRED1 (if available)
- Aminode:
- Evolutionary constrained regions (ECRs) for FOXRED1: view image
Paralogs for FOXRED1 Gene
Variants for FOXRED1 Gene
Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for FOXRED1 Gene
| SNP ID | Clinical significance and condition | Chr 11 pos | Variation | AA Info | Type |
|---|---|---|---|---|---|
| 668830 | Likely Benign: not provided | 126,276,157(+) | T/C | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT | |
| 678089 | Benign: not provided | 126,271,239(+) | A/AAAGG | INTRON_VARIANT | |
| 678598 | Benign: not provided | 126,276,905(+) | C/G | INTRON_VARIANT | |
| 703853 | Conflicting Interpretations: Mitochondrial complex I deficiency, nuclear type 1; not provided | 126,273,089(+) | A/G | INTRON_VARIANT | |
| 704020 | Likely Benign: not provided | 126,273,366(+) | C/T | NON_CODING_TRANSCRIPT_VARIANT,SYNONYMOUS_VARIANT |
Residual Variation Intolerance Score:
49.8% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score:
10.33;
90.74% of all genes are more intolerant (likely to be disease-causing)
Additional Variant Information for FOXRED1 Gene
SNP Genotyping and Copy Number Assay Products
No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for FOXRED1 Gene
Disorders for FOXRED1 Gene
(11) MalaCards diseases for FOXRED1 Gene - From: UniProtKB/Swiss-Prot, OMIM, ClinVar, GTR, Orphanet, DISEASES, and GeneCards
| Disorder | Aliases | PubMed IDs |
|---|---|---|
| mitochondrial complex i deficiency, nuclear type 19 |
|
|
| mitochondrial complex i deficiency, nuclear type 1 |
|
|
| leigh syndrome with leukodystrophy |
|
|
| leigh syndrome |
|
|
| multiple mitochondrial dysfunctions syndrome 1 |
|
|
Search FOXRED1 in MalaCards
View complete list of genes associated with diseases
UniProtKB/Swiss-Prot
FXRD1_HUMAN- Mitochondrial complex I deficiency, nuclear type 19 (MC1DN19) [MIM:618241]: A form of mitochondrial complex I deficiency, the most common biochemical signature of mitochondrial disorders, a group of highly heterogeneous conditions characterized by defective oxidative phosphorylation, which collectively affects 1 in 5-10000 live births. Clinical disorders have variable severity, ranging from lethal neonatal disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh syndrome, Leber hereditary optic neuropathy, and some forms of Parkinson disease. MC1DN19 transmission pattern is consistent with autosomal recessive inheritance. {ECO:0000269 PubMed:20818383, ECO:0000269 PubMed:20858599, ECO:0000269 PubMed:25678554}. Note=The disease is caused by mutations affecting the gene represented in this entry.
Additional Disease Information for FOXRED1
- Genetic Association Database
- (GAD)
- Human Genome Epidemiology Navigator
- (HuGE)
- ATLAS of Genetics and Cytogenetics in Oncology and Haematology
- Open Targets Platform
No data available for Genatlas for FOXRED1 Gene
Publications for FOXRED1 Gene
- Identification of differentially expressed genes associated with HER-2/neu overexpression in human breast cancer cells. (PMID: 10497265) Oh JJ … Slamon DJ (Nucleic acids research 1999) 2 3 4
- Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I. (PMID: 25678554) Formosa LE … Ryan MT (Human molecular genetics 2015) 3 4
- Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study. (PMID: 20628086) Bailey SD … DREAM investigators (Diabetes care 2010) 3 41
- Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PMID: 20877624) Hendrickson SL … O'Brien SJ (PloS one 2010) 3 41
- FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy. (PMID: 20858599) Fassone E … Rahman S (Human molecular genetics 2010) 3 4
ExternalLinks
Products for FOXRED1 Gene
- Custom Antibody ServicesOriGene Antibodies for FOXRED1
- Browse OriGene ELISA Kits
- Custom Assay Services
- OriGene Purified Proteins for FOXRED1
- Search Origene for MassSpec and Protein Over-expression Lysates for FOXRED1
- Origene Custom Protein Services for FOXRED1
- Origene shrna, sirna, and RNAi products in human, mouse, rat for FOXRED1
- Browse OriGene Inhibitory RNA Products For FOXRED1
- OriGene qPCR primer pairs for FOXRED1
- OriGene qPCR primer pairs and template standards for FOXRED1
- OriGene CRISPR knockouts for FOXRED1
- Custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
- Browse OriGene miRNA Products For FOXRED1
- Sino Biological Human cDNA Clone for FOXRED1
- Browse Sino Biological Recombinant Proteins
- Browse Sino Biological Cell Lysates
- Sino Biological Antibodies for FOXRED1
- Browse Sino Biological Assays
- Browse Antibodies
- Browse cDNA Clones
- Browse ELISA Kits
- Browse CRO Services
- High-throughput Antibody Production Service
- Protein Production Service
- Epitope Tag Antibodies & Reporter Protein Antibodies
- Lentiviral ORF Clones
- Novus Biologicals Antibodies for FOXRED1
- Novus Biologicals proteins and lysates for FOXRED1
- Browse Antibodies
- Browse Peptides and Proteins
- Browse Lysates
- Browse ELISA Kits
- Abcam proteins for FOXRED1
- Find your target
- Browse Primary Antibodies
- Browse Conjugated Primary Antibodies
- Browse Secondary Antibodies
- Browse ELISA Kits
- Browse Matched Antibody Pairs
- Browse Proteins and Peptides
- Search Knockout (KO) Validated Antibodies
- Browse Monoclonal Antibodies
- Browse Recombinant Antibodies
- Taconic Biosciences Mouse Models for FOXRED1
- Find your next knockout model in the Taconic Knockout Repository
- Genetically Engineered Models Available Immediately
- Humanized Mice
- Invitrogen Antibodies for FOXRED1 (AFLGC-FOXRED1)
- VectorBuilder Custom and pre-made DNA vectors for FOXRED1 (ie. gene expression, shRNA knockdown, CRISPR)
- VectorBuilder Viral vectors for FOXRED1 (ie. lentivirus, AAV, adenovirus)
- VectorBuilder CRISPR vectors for FOXRED1 (ie. knockout, knockin, CRISPRa, CRISPRi)
- VectorBuilder Virus packaging for FOXRED1 CRISPR vectors (ie. lentivirus, AAV, adenovirus)
- VectorBuilder Stable cell line generation for FOXRED1
- antibodies-online: Show 14 available FOXRED1 Antibodies ranked by validation data
- Compare Top FOXRED1 Antibodies
- antibodies-online: Search results for available FOXRED1 related products ranked by validation data
- antibodies-online: Show 3 available FOXRED1 Proteins ranked by validation data
- Compare Top FOXRED1 Proteins
- Quality Products:
- Santa Cruz Biotechnology (SCBT) Antibodies for FOXRED1
- Search Santa Cruz Biotechnology (SCBT) for FOXRED1 siRNA/shRNA
- Santa Cruz Biotechnology (SCBT) CRISPR for FOXRED1
- Horizon Cell Lines for FOXRED1
- Browse GeneCopoeia Cell Lines
- Search GeneCopoeia for CRISPR/Cas9 clones, lentivirus and AAV products for FOXRED1
- Search GeneCopoeia for ORF cDNA, lentivirus, AAV viral particles and/or promoter clone products for FOXRED1
- Search GeneCopoeia for miRNA 3'UTR Target clone products for FOXRED1
- Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for FOXRED1
Sources for FOXRED1 Gene
- (1) GeneCards
- (2) HGNC
- (3) NCBI Entrez Gene
- (4) UniProtKB/Swiss-Prot
- (5) Ensembl
- (6) OMIM
- (7) GeneLoc
- (8) Gene Wiki
- (9) UCSC
- (10) PhosphoSitePlus
- (11) Cell Signaling Technology
- (12) GO
- (13) UniProtKB/TrEMBL
- (14) InterPro
- (15) ProtoNet
- (16) Blocks
- (17) MGI
- (18) IUBMB
- (19) KEGG
- (20) MINT
- (21) STRING
- (22) IntAct
- (23) Novoseek
- (24) PharmGKB
- (25) DrugBank
- (26) HMDB
- (27) ASD
- (28) SAGE
- (29) SOURCE
- (30) HomoloGene
- (31) PanEnsembl
- (32) euGenes
- (33) SGD
- (34) FlyBase
- (35) WormBase
- (36) Pseudogene
- (37) DGV
- (38) dbSNP
- (39) GenAtlas
- (40) HGMD
- (41) GAD
- (42) BGMUT
- (43) HuGE
- (44) Atlas
- (45) GenBank
- (46) HORDE
- (47) HUGE
- (48) IMGT
- (49) Leiden
- (50) miRBase
- (51) DME
- (52) OriGene
- (53) PubMed
- (54) R&D Systems
- (55) TGDB
- (56) Tocris
- (57) Abcam
- (58) Novus Biologicals
- (59) ProSpec
- (60) Sino Biological
- (61) GenScript
- (62) Qiagen
- (63) OCA
- (64) Proteopedia
- (65) MOPED
- (66) neXtProt
- (67) Reactome
- (68) GeneGo (Thomson Reuters)
- (69) DISEASES
- (70) SIMAP
- (71) GenomeRNAi
- (72) LifeMap
- (73) miRTarBase
- (74) MalaCards
- (75) Invitrogen
- (76) BitterDB
- (77) ESI-BIO
- (78) RefSeq
- (79) BioSystems
- (80) MaxQB
- (81) IUPHAR
- (82) BioGPS
- (83) Illumina
- (84) COMPARTMENTS
- (85) HOMER
- (86) PaxDb
- (87) ApexBio
- (88) Addgene
- (89) antibodies-online
- (90) CYP
- (91) NONCODE
- (92) TreeFam
- (93) PathCards
- (94) GeneReviews
- (95) GeneTex
- (96) Taconic Biosciences
- (97) GTEx
- (98) ProteomicsDB
- (99) SCBT
- (100) DGIdb
- (101) ClinicalTrials
- (102) RVIS
- (103) SIGNOR
- (104) diseasecard
- (105) NIH Rare Diseases
- (106) Orphanet
- (107) UMLS
- (108) GTR
- (109) Disease Ontology
- (110) Genetics Home Reference
- (111) MeSH
- (112) MedlinePlus
- (113) CDC
- (114) NINDS
- (115) NCBI Bookshelf
- (116) ClinVar
- (117) Gene Damage Index
- (118) HPO
- (119) UDN
- (120) VISTA
- (121) FANTOM5
- (122) ENCODE
- (123) ProSci
- (124) Horizon
- (125) The Signaling Pathways Project (SPP)
- (126) IID
- (127) VectorBuilder
- (128) SNPedia
- (129) BRCA Exchange
- (130) CIViC
- (131) ProteoGenix
- (132) dbSUPER
- (133) TISSUES
- (134) Gene ORGANizer
- (135) abm
- (136) Human Protein Atlas
- (137) GWAS Catalog
- (138) Monarch Initiative
- (139) DataMed
- (140) HumanCyc
- (141) UCNEbase
- (142) EPDnew
- (143) Applied Biosystems
- (144) GlyConnect
- (145) Aminode
- (146) GeneCopoeia
- (147) GPS-Prot
- (148) RNACentral
- (149) LncRNADisease
- (150) LOVD
- (151) miR2Disease
- (152) DiseaseEnhancer
- (153) Boster Bio
- (154) Biorbyt
- (155) Biocompare
- (156) Mastermind
- (157) CTD^2 Dashboard
- (158) CraniofacialAtlas
- (159) GeneImprint
- (160) Synthego
- (161) ENA
- (162) GtRNAdb
- (163) LncBase
- (164) LncBook
- (165) LNCipedia
- (166) Modomics
- (167) PDBe
- (168) Rfam
- (169) SILVA
- (170) snOPY
- (171) SRPDB
- (172) GENCODE
- (173) TarBase
- (174) Signalway Antibody
- (175) Open Targets Platform
- (176) 5SRRNADB
- (177) snoDB
- (178) MirGeneDB