MT-CYB Chromosome MT
Mitochondrially encoded cytochrome b
Upload your DNA to see your personal genotypes for variants in MT-CYB.
What This Gene Does
Predicted to enable metal ion binding activity. Predicted to contribute to ubiquinol-cytochrome-c reductase activity. Predicted to be involved in mitochondrial electron transport, ubiquinol to cytochrome c. Located in mitochondrial inner membrane. Implicated in ovarian carcinoma and urinary bladder cancer. [provided by Alliance of Genome Resources, Apr 2025]
Gene Info
Gene Group
"Mitochondrial complex III: ubiquinol-cytochrome c reductase complex subunits|Mitochondrially encoded protein coding genes"
Locus Type
gene with protein product
Location
mitochondria
Ensembl
ENSG00000198727
Associated Conditions (9)
Leigh syndrome
Mitochondrial encephalomyopathy
Mitochondrial disease
Primary mitochondrial disorders
Exercise intolerance
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Leber optic atrophy
Parkinsonism/MELAS overlap syndrome
MELAS syndrome
Key Variants
RS1603224966
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS207459999
Likely pathogenic
Mitochondrial encephalomyopathy, Leigh syndrome, Mitochondrial disease
Health Risk
RS207460000
Likely pathogenic
Exercise intolerance, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Leber optic atrophy
Health Risk
RS207460005
Likely pathogenic
Parkinsonism/MELAS overlap syndrome, Mitochondrial disease, Parkinsonism/MELAS overlap syndrome
Health Risk
RS2520748309
Likely pathogenic
MELAS syndrome, MELAS syndrome
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603224966 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS207459999 | Health Risk | Likely pathogenic | Mitochondrial encephalomyopathy, Leigh syndrome, Mitochondrial disease |
| RS207460000 | Health Risk | Likely pathogenic | Exercise intolerance, Mitochondrial myopathy with reversible cytochrome C oxidase deficiency, Leber optic atrophy |
| RS207460005 | Health Risk | Likely pathogenic | Parkinsonism/MELAS overlap syndrome, Mitochondrial disease, Parkinsonism/MELAS overlap syndrome |
| RS2520748309 | Health Risk | Likely pathogenic | MELAS syndrome, MELAS syndrome |