FOXRED1
Chr 11ARFAD dependent oxidoreductase domain containing 1
Also known as: FP634, H17, MC1DN19
FOXRED1 encodes a FAD-dependent oxidoreductase that serves as a chaperone protein required for the assembly of mitochondrial complex I (NADH dehydrogenase), particularly during mid-late assembly stages. Mutations cause mitochondrial complex I deficiency with autosomal recessive inheritance, typically presenting in infancy or early childhood with neurological symptoms, developmental delays, and multi-organ involvement. The gene shows extremely low constraint against loss-of-function variants (pLI near zero), consistent with its recessive disease mechanism.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 16 | 0 | 9 | 0 | 25 |
Likely Pathogenic | 13 | 0 | 0 | 0 | 13 |
VUS | 0 | 44 | 3 | 0 | 47 |
Likely Benign | 0 | 4 | 39 | 57 | 100 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 29 | 48 | 51 | 57 | 185 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FOXRED1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools