Gene
MT-CYB
mitochondrially encoded cytochrome b
- HGNC 7427↗(opens in a new tab)
- Ensembl gene ENSG00000198727↗(opens in a new tab)
- NCBI Gene 4519↗(opens in a new tab)
Summary
- Cytogenetic location
- mitochondria
- Also known as
- COB, CYTB, UQCR3
- Previous symbols
- MTCYB
- 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 a genome test reads MT-CYB
5
positions in MT-CYB where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
Traits linked to MT-CYB
The Human Phenotype Ontology lists these as features of the rare conditions MT-CYB can cause. Each trait's page lists the other genes linked to it.
Abnormality of the eye
- Slow decrease in sharpness of vision
- Blind spot located at fixation point
- Blurred vision
- Centrocecal scotoma
- Damaged optic nerve
- Optic atrophy
- Progressive loss of vision
- Abnormal color vision
Show 14 more traits
- Abnormal electroretinogram
- Abnormality of visual evoked potentials
- Reduced contrast sensitivity
- Retinal nerve fiber edema
- Abnormally small eyeball
- Congenital aphakia
- Corneal opacity
- Enlarged cornea
- Cerebral visual impairment
- Clouding of the lens of the eye at birth
- Eye muscle paralysis
- Hemianopia
- Leber optic atrophy
- Visual loss
Abnormality of the cardiovascular system
- Elevated heart rate
- Retinal telangiectasia
- Retinal vascular tortuosity
- Supraventricular tachycardia
- Ventricular tachycardia
- Abnormal heart rate
- Cardiac failure
- Complete right bundle branch block
Show 13 more traits
- Enlarged heart
- Interruption of electrical communication between upper and lower chambers of heart
- Junctional ectopic tachycardia
- Stroke-like episode
- Ventricular preexcitation
- Wolff-Parkinson-White syndrome
- Atrial flutter
- Hole in heart wall separating two lower heart chambers
- Quivering upper heart chambers resulting in irregular heartbeat
- Shortened PR interval
- Abnormal left ventricular function
- High blood pressure
- Left ventricular hypertrophy
External links
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- 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.). MT-CYB gene: mitochondrially encoded cytochrome b. Retrieved 17 October 2026, from https://dantelabs.com/genes/mt-cyb
Dante Labs. MT-CYB gene: mitochondrially encoded cytochrome b [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mt-cyb
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