FDXR Chromosome 17
Ferredoxin reductase
Upload your DNA to see your personal genotypes for variants in FDXR.
What This Gene Does
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]
Gene Info
Gene Group
"Mitochondrial respiratory chain complex assembly factors|Mitochondrial iron-sulfur assembly components|Flavoproteins"
Locus Type
gene with protein product
Location
17q25.1
Ensembl
ENSG00000161513
Associated Conditions (8)
FDXR-related disorder
Inborn genetic diseases
Auditory neuropathy-optic atrophy syndrome
Auditory neuropathy
Ferrodoxin Reductase (FDXR) Deficiency
Multiple mitochondrial dysfunctions syndrome 9b
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Phenylketonuria
Key Variants
RS113594178
Conflicting classifications of pathogenicity
FDXR-related disorder, Inborn genetic diseases, FDXR-related disorder
Health Risk
RS143458938
Conflicting classifications of pathogenicity
Auditory neuropathy-optic atrophy syndrome, Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome
Health Risk
RS146539535
Conflicting classifications of pathogenicity
Inborn genetic diseases, FDXR-related disorder, Inborn genetic diseases
Health Risk
RS199826370
Conflicting classifications of pathogenicity
Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy, Auditory neuropathy-optic atrophy syndrome
Health Risk
RS746953590
Conflicting classifications of pathogenicity
Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome, FDXR-related disorder
Health Risk
RS756882582
Conflicting classifications of pathogenicity
Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome, Inborn genetic diseases
Health Risk
RS770691402
Conflicting classifications of pathogenicity
Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
Health Risk
RS1441084539
Likely pathogenic
Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
Health Risk
RS1598515363
Likely pathogenic
Multiple mitochondrial dysfunctions syndrome 9b, Multiple mitochondrial dysfunctions syndrome 9b
Health Risk
RS1598518754
Likely pathogenic
Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
Health Risk
RS2144662023
Likely pathogenic
Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome
Health Risk
RS370799304
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
All Variants (28)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113594178 | Health Risk | Conflicting classifications of pathogenicity | FDXR-related disorder, Inborn genetic diseases, FDXR-related disorder |
| RS143458938 | Health Risk | Conflicting classifications of pathogenicity | Auditory neuropathy-optic atrophy syndrome, Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome |
| RS146539535 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, FDXR-related disorder, Inborn genetic diseases |
| RS199826370 | Health Risk | Conflicting classifications of pathogenicity | Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy, Auditory neuropathy-optic atrophy syndrome |
| RS746953590 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome, FDXR-related disorder |
| RS756882582 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome, Inborn genetic diseases |
| RS770691402 | Health Risk | Conflicting classifications of pathogenicity | Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome |
| RS1441084539 | Health Risk | Likely pathogenic | Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome |
| RS1598515363 | Health Risk | Likely pathogenic | Multiple mitochondrial dysfunctions syndrome 9b, Multiple mitochondrial dysfunctions syndrome 9b |
| RS1598518754 | Health Risk | Likely pathogenic | Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome |
| RS2144662023 | Health Risk | Likely pathogenic | Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome |
| RS370799304 | Health Risk | Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS746364915 | Health Risk | Likely pathogenic | — |
| RS751848355 | Health Risk | Likely pathogenic | — |
| RS752675360 | Health Risk | Likely pathogenic | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome, Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome |
| RS760480600 | Health Risk | Likely pathogenic | — |
| RS767115077 | Health Risk | Likely pathogenic | — |
| RS778143816 | Health Risk | Likely pathogenic | FDXR-related disorder, FDXR-related disorder |
| RS1313895172 | Health Risk | Pathogenic | Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome |
| RS1555620021 | Health Risk | Pathogenic | Auditory neuropathy-optic atrophy syndrome, Auditory neuropathy-optic atrophy syndrome |
| RS1567909915 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2509785660 | Health Risk | Pathogenic | Auditory neuropathy-optic atrophy syndrome, Multiple mitochondrial dysfunctions syndrome 9b, Auditory neuropathy-optic atrophy syndrome |
| RS2509788341 | Health Risk | Pathogenic | Multiple mitochondrial dysfunctions syndrome 9b, Multiple mitochondrial dysfunctions syndrome 9b |
| RS752001360 | Health Risk | Pathogenic | Auditory neuropathy-optic atrophy syndrome, Multiple mitochondrial dysfunctions syndrome 9b, Auditory neuropathy-optic atrophy syndrome |
| RS1323016653 | Health Risk | Pathogenic/Likely pathogenic | Auditory neuropathy-optic atrophy syndrome, Multiple mitochondrial dysfunctions syndrome 9b, Auditory neuropathy-optic atrophy syndrome |
| RS752143061 | Health Risk | Pathogenic/Likely pathogenic | Auditory neuropathy-optic atrophy syndrome, Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome |
| RS760030067 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS760345680 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Auditory neuropathy-optic atrophy syndrome, FDXR-related disorder |