Gene
FDXR
ferredoxin reductase
- HGNC 3642(opens in a new tab)
- Ensembl gene ENSG00000161513(opens in a new tab)
- NCBI Gene 2232(opens in a new tab)
Summary
- Cytogenetic location
- 17q25.1
- Coordinates
- Chromosome 17: 74,862,497–74,872,994 (GRCh38)
- Exons
- 12 exons across 10.5 kb
- Protein
- 491 amino acids
- Also known as
- ADR, AR
- Previous symbols
- ADXR
- MANE Select transcript
- ENST00000293195.10NM_024417.5
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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How FDXR is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 1.8 kb of the gene's 10.5 kb; 1,476 of those bases code for the protein.
How a genome test reads FDXR
20
positions in FDXR where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.5 kb of FDXR, introns included, not only the 1.8 kb of exons.
Traits linked to FDXR
The Human Phenotype Ontology lists these as features of the rare conditions FDXR can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Abnormal corpus callosum morphology
- Abnormal diffusion weighted cerebral MRI morphology
- Abnormality of balance
- Abnormality of somatosensory evoked potentials
- Absent reflexes
- Agitation
- Anxiety
- Cerebellar vermis hypoplasia
Show 64 more traits
- Clumsiness
- Compound motor action potential abnormality
- Damage to nerves that sense feeling
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Decreased compound muscle action potential amplitude
- Decreased distal sensory nerve action potential
- Decreased touch sensation in extremities
- Delayed fine motor development
- Delayed motor skills
- Delayed speech and language development
- Depression
- Difficulty articulating speech
- Difficulty sleeping
- Difficulty staying or falling asleep
- Diffuse cerebral atrophy
- Drowsiness
- Dysesthesia
- Dystonia
- Encephalopathy
- Extra-axial cerebrospinal fluid accumulation
- Falls
- Febrile seizure (within the age range of 3 months to 6 years)
- Hyperacusis
- Hyperesthesia
- Inability to coordinate movements when walking
- Intellectual disability
- Intellectual disability, mild
- IQ less than 20
- Irritability
- Lethargy
- Loss of ability to walk
- Motor delay
- Motor regression
- Paralysis
- Paralysis of all four limbs
- Peripheral axonal neuropathy
- Peripheral nerve disease
- Recurrent hand flapping
- Reduced cerebral white matter volume
- Repeated seizures without recovery between them
- Speech apraxia
- Thin corpus callosum
- Toe walking
- Unsteady walk
- Upper limb hyperreflexia
- Ataxia
- Global developmental delay
- Abnormal basal ganglia morphology
- Degeneration of cerebellum
- Degeneration of cerebrum
- Epilepsy
- Interictal EEG abnormality
- Loss of developmental milestones
- Poor speech
- Abnormality of movement
- Cerebral white matter hypoplasia
- Delayed CNS myelination
- Delayed myelination
- EEG abnormality
- Infantile spasms
- Periventricular white matter hypodensities
- Small basal ganglia
- Underdeveloped frontal lobe
- Underdevelopment of part of brain called corpus callosum
Abnormality of the eye
- Abnormal retinal nerve fiber layer morphology
- Blind spot located at fixation point
- Blindness
- Blurred vision
- Breakdown of light-sensitive cells in back of eye
- Cerebral visual impairment
- Cross-eyed
- Damaged optic nerve
Show 38 more traits
- Decreased clarity of vision
- Farsightedness
- Horizontal nystagmus
- Hyperautofluorescent retinal lesion
- Hyperopic astigmatism
- Inward turning cross eyed
- Lazy eye
- Limited peripheral vision
- Marked vision impairment
- Mildly reduced visual acuity
- Moderate visual impairment
- Noninflammatory retina disease
- Optic atrophy
- Optic disc pallor
- Optic nerve hypoplasia
- Perifoveal ring of hyperautofluorescence
- Pigmentary retinopathy
- Poor visual behavior for age
- Retina degeneration
- Retinal atrophy
- Retinal pigment epithelial mottling
- Retinal thinning
- Slow pupillary light response
- Ultra-low vision
- Ultra-low vision with retained light perception
- Undetectable electroretinogram
- Visual impairment
- Visual loss
- Yellowish cloudy center of lens
- Clouding of the lens of the eye
- Cystoid macular edema
- Difficulties with night vision
- Eye muscle paralysis
- Involuntary, rapid, rhythmic eye movements
- Drooping upper eyelid
- Extreme sensitivity of the eyes to light
- Outward facing eye ball
- Rod-cone dystrophy
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). FDXR gene: ferredoxin reductase. Retrieved 16 October 2026, from https://dantelabs.com/genes/fdxr
Dante Labs. FDXR gene: ferredoxin reductase [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fdxr
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