Gen
FDXR
ferredoxin reductase
- HGNC 3642(åbnes i en ny fane)
- Ensembl-gen ENSG00000161513(åbnes i en ny fane)
- NCBI Gene 2232(åbnes i en ny fane)
Oversigt
- Cytogenetisk placering
- 17q25.1
- Koordinater
- Kromosom 17: 74.862.497–74.872.994 (GRCh38)
- Exoner
- 12 exoner fordelt over 10,5 kb
- Protein
- 491 aminosyrer
- Også kendt som
- ADR, AR
- Tidligere symboler
- ADXR
- MANE Select-transkript
- ENST00000293195.10NM_024417.5
- Lokustype
- gene with protein product
- Meget høj
- Sikker
- Lav
- Meget lav
ReferencegenomGRCh38hg38
Positioner på gen- og variantsider følger dette valg i denne browser.
Læs FDXR og resten af dit genom med én test.
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Bestil min Genome TestKurerede rapporter relevant for dette gen
Ingen Genome Test-rapport læser FDXR endnu. Testen sekventerer hele dit genom, så dine data omfatter det alligevel.
Sådan er FDXR opbygget
- Kodende sekvens
- Utranslateret region
- Intron
- Transkriptionsretning
- Kendte sygdomsfremkaldende steder
- Regioner, som korte læsninger har svært ved
Eksoner i genets MANE Select-transkript (udgave v1.5), fra NCBI og EMBL-EBI, på referencegenomet GRCh38.
Kromosombånd fra UCSC's GRCh38-ideogram (2022-10-29).
Gener i nærheden fra Ensembl-udgivelse 116, på GRCh38.
Eksoner udgør 1,8 kb af genets 10,5 kb; 1.476 af disse baser koder for proteinet.
Sådan læser en genomtest FDXR
20
positioner i FDXR, hvor ClinVar klassificerer en ændring som patogen eller sandsynligvis patogen
Ingen af dem ligger i en region, som korte læsninger har svært ved.
En helgenomsanalyse dækker alle 10,5 kb af FDXR, inklusive introner, og ikke kun de 1,8 kb eksoner.
Træk knyttet til FDXR
Human Phenotype Ontology angiver disse som kendetegn ved de sjældne tilstande, FDXR kan forårsage. Hvert træks side viser de andre gener, der er knyttet til det.
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
Vis 64 træk mere
- 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
Vis 38 træk mere
- 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
Eksterne links
Genposter
Transkript
Protein
Hvor oplysningerne kommer fra
- HGNC: genets symbol, navn, andre symboler og placering.
- MANE Select v1.5, fra NCBI og EMBL-EBI: transkriptet, dets exoner og kodende sekvens.
- ClinVar og GIAB-stratifikationerne: kendte sygdomsfremkaldende positioner og de regioner, som korte læsninger har svært ved at aflæse.
- Human Phenotype Ontology, version 2026-09-01: de træk, der er knyttet til genet. Læs mere på hpo.jax.org.
- Dataudgivelse 2026.10.16-c6eea6bf.
Citér denne side
Dante Labs. (u.d.). FDXR-genet: ferredoxin reductase. Hentet 17. oktober 2026, fra https://dantelabs.com/da/genes/fdxr
Dante Labs. FDXR-genet: ferredoxin reductase [Internet]. [citeret 17. oktober 2026]. Tilgængelig fra: https://dantelabs.com/da/genes/fdxr
Én test. Svar for hele livet.
Fra 449 $Gratis forsendelse · Resultater på 6–8 uger