FOXRED1 Chromosome 11
FAD dependent oxidoreductase domain containing 1
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What This Gene Does
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]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Flavoproteins"
Locus Type
gene with protein product
Location
11q24.2
Ensembl
ENSG00000110074
Associated Conditions (8)
Leigh syndrome
Mitochondrial complex I deficiency
nuclear type 1
nuclear type 19
FOXRED1-related disorder
Inborn genetic diseases
Mitochondrial encephalopathy
Mitochondrial disease
Key Variants
RS138061928
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS139851379
Conflicting classifications of pathogenicity
FOXRED1-related disorder, FOXRED1-related disorder
Health Risk
RS143739550
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS145888229
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
Health Risk
RS146661281
Conflicting classifications of pathogenicity
Leigh syndrome, Mitochondrial complex I deficiency, nuclear type 1
Health Risk
RS147235743
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS148346044
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS149851763
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS150562772
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS180800246
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 1, Mitochondrial complex I deficiency
Health Risk
RS187124232
Conflicting classifications of pathogenicity
Health Risk
RS199542988
Conflicting classifications of pathogenicity
Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency
Health Risk
All Variants (88)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2497198641 | Health Risk | Likely pathogenic | — |
| RS267606830 | Health Risk | Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency |
| RS758408106 | Health Risk | Likely pathogenic | Leigh syndrome, Leigh syndrome |
| RS761690280 | Health Risk | Likely pathogenic | — |
| RS771941278 | Health Risk | Likely pathogenic | — |
| RS863224020 | Health Risk | Likely pathogenic | — |
| RS1189650128 | Health Risk | Pathogenic | Leigh syndrome, Leigh syndrome |
| RS1397572066 | Health Risk | Pathogenic | — |
| RS1411660488 | Health Risk | Pathogenic | — |
| RS1591548857 | Health Risk | Pathogenic | Mitochondrial encephalopathy, Mitochondrial encephalopathy |
| RS1951046310 | Health Risk | Pathogenic | — |
| RS1951102099 | Health Risk | Pathogenic | — |
| RS1951175181 | Health Risk | Pathogenic | — |
| RS2497175982 | Health Risk | Pathogenic | — |
| RS2497176150 | Health Risk | Pathogenic | — |
| RS2497176600 | Health Risk | Pathogenic | — |
| RS2497179129 | Health Risk | Pathogenic | — |
| RS2497179434 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2497179468 | Health Risk | Pathogenic | — |
| RS2497190835 | Health Risk | Pathogenic | — |
| RS2497191181 | Health Risk | Pathogenic | — |
| RS2497202625 | Health Risk | Pathogenic | — |
| RS267606829 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 19, Leigh syndrome |
| RS387907087 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 19, Inborn genetic diseases |
| RS754219853 | Health Risk | Pathogenic | — |
| RS754383840 | Health Risk | Pathogenic | — |
| RS754952690 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency |
| RS755458223 | Health Risk | Pathogenic | — |
| RS756464859 | Health Risk | Pathogenic | — |
| RS760964794 | Health Risk | Pathogenic | — |
| RS768720209 | Health Risk | Pathogenic | Mitochondrial complex I deficiency, nuclear type 19, Leigh syndrome |
| RS777259232 | Health Risk | Pathogenic | — |
| RS951249107 | Health Risk | Pathogenic | — |
| RS965900698 | Health Risk | Pathogenic | — |
| RS1555066709 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Leigh syndrome, Mitochondrial complex I deficiency |
| RS398124308 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, Leigh syndrome, nuclear type 1 |
| RS749110767 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 19, Inborn genetic diseases |
| RS780131344 | Health Risk | Pathogenic/Likely pathogenic | Mitochondrial complex I deficiency, nuclear type 19, Mitochondrial complex I deficiency |