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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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FOXRED1
FAD dependent oxidoreductase domain containing 1
Chromosome 11 Β· 11q24.2
NCBI Gene: 55572Ensembl: ENSG00000110074.12HGNC: HGNC:26927UniProt: A0A8J9AK24
52PubMed Papers
21Diseases
0Drugs
63Pathogenic Variants
FUNCTIONAL ROLE
Transporter
RESEARCH IMPACT
Variant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
mitochondrial respiratory chain complex I assemblymitochondrionmitochondrial inner membranecytoplasmmitochondrial complex I deficiencymitochondrial complex I deficiency, nuclear type 19Leigh syndromemitochondrial disease
✦AI Summary

FOXRED1 (FAD-dependent oxidoreductase domain containing 1) is a mitochondrial assembly factor essential for respiratory chain complex I biogenesis. As a 486-amino acid FAD-dependent oxidoreductase 1, FOXRED1 functions specifically in the mid-late stages of complex I assembly 2. The protein facilitates the transition of an ~815 kDa intermediate complex to the mature ~1000 kDa complex I; without FOXRED1, cells retain only ~10% complex I levels with markedly reduced enzymatic activity 2. FOXRED1 achieves this through co-immunoprecipitation with multiple complex I subunits 2, suggesting direct participation in assembly scaffolding. Mutations in FOXRED1 cause complex I deficiency and Leigh syndrome, a severe neonatal neurodegenerative disease characterized by prominent dopaminergic degeneration 34. Interestingly, FOXRED1's phylogenetic distribution does not parallel complex I evolution, suggesting potential additional metabolic roles in amino acid metabolism 1. Beyond mitochondrial disease, FOXRED1 expression levels correlate with colorectal cancer prognosis, with higher expression predicting improved survival and serving as an independent prognostic factor 5. FOXRED1 mutations have also been identified in breast cancer genomic profiling as potentially pathogenic variants 6. These findings position FOXRED1 as both a critical mitochondrial biogenesis factor and potential oncological biomarker.

Sources cited
1
FOXRED1 is involved in mid-late stages of complex I assembly and is crucial for productive assembly; FOXRED1 knockout reduces complex I to ~10% levels
PMID: 25678554
2
FOXRED1 silencing in animal models produces Leigh syndrome with distinctive dopaminergic degeneration and behavioral changes
PMID: 31273716
3
Mutations in FOXRED1 can cause complex I deficiency; identified through high-throughput sequencing and functional validation
PMID: 20818383
4
FOXRED1 is a 486-amino acid mitochondrial FAD-dependent oxidoreductase related to N-methyl amino acid dehydrogenases; mutations cause infantile encephalomyopathy and Leigh syndrome
PMID: 25681241
5
Higher FOXRED1 expression in colorectal cancer correlates with better prognosis and higher 3-year survival rates; functions as independent prognostic factor
PMID: 27904784
6
FOXRED1 mutations identified in breast cancer genomic profiling as potentially pathogenic variants associated with tumorigenesis
PMID: 39684297
Disease Associationsβ“˜21
mitochondrial complex I deficiencyOpen Targets
0.78Strong
mitochondrial complex I deficiency, nuclear type 19Open Targets
0.75Strong
Leigh syndromeOpen Targets
0.66Moderate
mitochondrial diseaseOpen Targets
0.65Moderate
mitochondrial complex I deficiency, nuclear type 1Open Targets
0.63Moderate
genetic disorderOpen Targets
0.52Moderate
Mitochondrial encephalopathyOpen Targets
0.35Weak
neurodegenerative diseaseOpen Targets
0.27Weak
lymphatic system diseaseOpen Targets
0.26Weak
developmental disabilityOpen Targets
0.12Weak
SeizureOpen Targets
0.11Weak
esophageal adenocarcinomaOpen Targets
0.07Suggestive
glycoprotein storage diseaseOpen Targets
0.05Suggestive
hemoglobin H diseaseOpen Targets
0.04Suggestive
Hemoglobin C - beta-thalassemiaOpen Targets
0.04Suggestive
hemoglobin C-beta-thalassemia syndromeOpen Targets
0.04Suggestive
combined immunodeficiency due to OX40 deficiencyOpen Targets
0.04Suggestive
dominant beta-thalassemiaOpen Targets
0.03Suggestive
Hyperlipoproteinemia type 1Open Targets
0.03Suggestive
Felty's syndromeOpen Targets
0.03Suggestive
Mitochondrial complex I deficiency, nuclear type 19UniProt
Pathogenic Variants63
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)Pathogenic
not provided|Mitochondrial complex I deficiency|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 1|Mitochondrial complex I deficiency, nuclear type 19|Inborn genetic diseases|Mitochondrial disease
β˜…β˜…β˜†β˜†2026β†’ Residue 206
NM_017547.4(FOXRED1):c.1057G>T (p.Glu353Ter)Pathogenic
Mitochondrial complex I deficiency, nuclear type 19|not provided
β˜…β˜…β˜†β˜†2026β†’ Residue 353
NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp)Pathogenic
Mitochondrial complex I deficiency, nuclear type 19|Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 352
NM_017547.4(FOXRED1):c.86-1G>APathogenic
not provided|Mitochondrial complex I deficiency, nuclear type 19|Leigh syndrome
β˜…β˜…β˜†β˜†2025
NM_017547.4(FOXRED1):c.694C>T (p.Gln232Ter)Pathogenic
Mitochondrial complex I deficiency, nuclear type 19|not provided|Leigh syndrome|FOXRED1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 232
NM_017547.4(FOXRED1):c.874G>A (p.Gly292Arg)Pathogenic
not provided|Mitochondrial complex I deficiency, nuclear type 19|Inborn genetic diseases
β˜…β˜…β˜†β˜†2024β†’ Residue 292
NM_017547.4(FOXRED1):c.733+1G>APathogenic
Mitochondrial complex I deficiency, nuclear type 19|not provided
β˜…β˜…β˜†β˜†2024
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)Pathogenic
not provided|Inborn genetic diseases|Leigh syndrome|Mitochondrial complex I deficiency, nuclear type 19
β˜…β˜…β˜†β˜†2024β†’ Residue 368
NM_017547.4(FOXRED1):c.530_534del (p.Val177fs)Pathogenic
Inborn genetic diseases|not provided
β˜…β˜…β˜†β˜†2024β†’ Residue 177
NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)Pathogenic
Leigh syndrome|not provided
β˜…β˜…β˜†β˜†2023β†’ Residue 203
NM_017547.4(FOXRED1):c.307-2A>GLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2025
NM_017547.4(FOXRED1):c.277C>T (p.Arg93Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 93
NM_017547.4(FOXRED1):c.862_871dup (p.Ala291fs)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 291
NM_017547.4(FOXRED1):c.1233_1234delinsGA (p.Tyr411_Asp412delinsTer)Pathogenic
Mitochondrial complex I deficiency, nuclear type 19
β˜…β˜†β˜†β˜†2025β†’ Residue 411
NM_017547.4(FOXRED1):c.1233C>G (p.Tyr411Ter)Pathogenic
not provided
β˜…β˜†β˜†β˜†2025β†’ Residue 411
NM_017547.4(FOXRED1):c.838C>T (p.Gln280Ter)Likely pathogenic
Mitochondrial disease
β˜…β˜†β˜†β˜†2024β†’ Residue 280
NM_017547.4(FOXRED1):c.313C>T (p.Gln105Ter)Likely pathogenic
not provided
β˜…β˜†β˜†β˜†2024β†’ Residue 105
NM_017547.4(FOXRED1):c.789_810+14delLikely pathogenic
not provided
β˜…β˜†β˜†β˜†2024
NM_017547.4(FOXRED1):c.811-1G>ALikely pathogenic
Mitochondrial complex I deficiency, nuclear type 19
β˜…β˜†β˜†β˜†2024
NM_017547.4(FOXRED1):c.1289A>G (p.Asn430Ser)Likely pathogenic
Mitochondrial complex I deficiency, nuclear type 19
β˜…β˜†β˜†β˜†2024β†’ Residue 430
View on ClinVar β†—
Related Genes
TMEM186Shared pathway100%NDUFAF7Shared pathway100%NDUFAF8Shared pathway100%DMAC1Shared pathway100%LYRM2Shared pathway100%NDUFAF5Protein interaction100%
Tissue Expression6 tissues
Liver
100%
Heart
70%
Bone Marrow
53%
Brain
46%
Ovary
43%
Lung
27%
Gene Interaction Network
Click a node to explore
FOXRED1TMEM186NDUFAF7NDUFAF8DMAC1LYRM2NDUFAF5
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt Q96CU9
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
1.12LoF Tolerant
pLIβ“˜
0.00Tolerant
Observed/Expected LoF0.85 [0.65–1.12]
RankingsWhere FOXRED1 stands among ~20K protein-coding genes
  • #8,554of 20,598
    Most Researched52
  • #1,132of 5,498
    Most Pathogenic Variants63 Β· top quartile
  • #11,506of 17,882
    Most Constrained (LOEUF)1.12
Genes detectedFOXRED1
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Animal Model for Leigh Syndrome.
PMID: 31273716
Methods Mol Biol Β· 2019
1.00
2
High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency.
PMID: 20818383
Nat Genet Β· 2010
0.90
3
Obesity-Associated TRIM15 Promotes the Proliferation of Esophageal Adenocarcinoma Through the YY2/FOXRED1 Axis.
PMID: 41237333
Adv Sci (Weinh) Β· 2026
0.80
4
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I.
PMID: 25678554
Hum Mol Genet Β· 2015
0.70
5
Exploring Aerobic Energy Metabolism in Breast Cancer: A Mutational Profile of Glycolysis and Oxidative Phosphorylation.
PMID: 39684297
Int J Mol Sci Β· 2024
0.60