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10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
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CYTB
mitochondrially encoded cytochrome b
Chromosome MT
NCBI Gene: 4519Ensembl: ENSG00000198727.2HGNC: HGNC:7427UniProt: P00156
48PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
Transporter
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Swiss-Prot Reviewed
Leber hereditary optic neuropathyhistiocytoid cardiomyopathyExercise intolerancemitochondrial encephalomyopathy
✦AI Summary

CYTB encodes cytochrome b, a core component of the ubiquinol-cytochrome c reductase complex (complex III) in the mitochondrial respiratory chain. It mediates electron transfer from ubiquinol to cytochrome c and contributes to proton gradient generation essential for ATP synthesis 1. Beyond its classical respiratory function, CYTB transcripts encode a previously unrecognized 187-amino-acid protein (CYTB-187AA) through cytosolic translation, which localizes to the mitochondrial matrix and regulates pluripotency and fertility by modulating ATP production via interaction with SLC25A3 1. CYTB mutations impair mitochondrial translation, particularly affecting proteins with high phenylalanine content, leading to respiratory complex dysfunction, reduced membrane potential, and increased reactive oxygen species production 2. These defects underlie pathological conditions including cardiomyopathy and deafness through impaired mitochondrial bioenergetics and autophagy dysregulation. Clinically, CYTB serves as a therapeutic target for malaria control; endochin-like quinolones inhibiting the cytochrome bc1 complex demonstrate potent antiparasitic activity in insecticide-resistant mosquitoes 3. Additionally, CYTB sequence variation has applications in population genetics and species identification across diverse organisms 45. The gene's dual role in oxidative phosphorylation and novel protein translation establishes it as multifunctional in cellular energy metabolism and development.

Sources cited
1
CYTB encodes cytochrome b (respiratory complex III component) and a novel 187-amino-acid protein (CYTB-187AA) that regulates pluripotency and fertility
PMID: 38703762
2
CYTB mutations impair mitochondrial translation, reduce respiratory complex activities, decrease membrane potential, increase ROS production, and promote apoptosis in deafness pathogenesis
PMID: 38552739
3
CYTB is a therapeutic target; endochin-like quinolones targeting the cytochrome bc1 complex show potent antiparasitic activity against Plasmodium falciparum in insecticide-resistant mosquitoes
PMID: 40399670
4
CYTB gene sequences are used for genetic diversity assessment and population genetics studies in endangered species
PMID: 41310789
5
CYTB sequences are utilized for phylogenetic analysis and haplotype characterization in parasite genetic diversity studies
PMID: 33896429
Disease Associationsβ“˜22
Leber hereditary optic neuropathyOpen Targets
0.71Strong
histiocytoid cardiomyopathyOpen Targets
0.66Moderate
Exercise intoleranceOpen Targets
0.65Moderate
mitochondrial encephalomyopathyOpen Targets
0.65Moderate
mitochondrial diseaseOpen Targets
0.63Moderate
MELAS syndromeOpen Targets
0.55Moderate
mitochondrial myopathy with reversible cytochrome C oxidase deficiencyOpen Targets
0.51Moderate
maternally-inherited diabetes and deafnessOpen Targets
0.45Moderate
inborn mitochondrial myopathyOpen Targets
0.44Moderate
Mitochondrial myopathyOpen Targets
0.44Moderate
Leigh syndromeOpen Targets
0.42Moderate
familial colorectal cancerOpen Targets
0.42Moderate
Hereditary breast cancerOpen Targets
0.41Moderate
hereditary breast carcinomaOpen Targets
0.41Moderate
ovarian cancerOpen Targets
0.41Moderate
ovarian neoplasmOpen Targets
0.41Moderate
Isolated CoQ-cytochrome C reductase deficiencyOpen Targets
0.37Weak
mitochondrial complex III deficiencyOpen Targets
0.37Weak
Sudden deathOpen Targets
0.36Weak
Pearson syndromeOpen Targets
0.34Weak
Cardiomyopathy, infantile histiocytoidUniProt
Leber hereditary optic neuropathyUniProt
Pathogenic Variants5
NC_012920.1(MT-CYB):m.15242G>ALikely pathogenic
Mitochondrial encephalomyopathy|Leigh syndrome|Mitochondrial disease|Primary Mitochondrial Disorders
β˜…β˜…β˜…β˜†2024
NC_012920.1(MT-CYB):m.15150G>ALikely pathogenic
Exercise intolerance|Mitochondrial myopathy with reversible cytochrome C oxidase deficiency|Leber optic atrophy|Mitochondrial disease
β˜…β˜…β˜…β˜†2024
NC_012920.1(MT-CYB):m.14783TTAA[1]Likely pathogenic
Parkinsonism/MELAS overlap syndrome|Mitochondrial disease
β˜…β˜…β˜…β˜†2023
NC_012920.1(MT-CYB):m.15041G>ALikely pathogenic
Primary Mitochondrial Disorders
β˜…β˜†β˜†β˜†2026
NC_012920.1(MT-CYB):m.15215G>ALikely pathogenic
MELAS syndrome
β˜…β˜†β˜†β˜†2024
View on ClinVar β†—
Related Genes
UQCR10Protein interaction100%NDUFS2Protein interaction100%UQCR11Protein interaction100%UQCRHProtein interaction100%UQCRFS1Protein interaction100%NDUFV1Protein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
79%
Brain
29%
Ovary
13%
Lung
12%
Bone Marrow
8%
Gene Interaction Network
Click a node to explore
CYTBUQCR10NDUFS2UQCR11UQCRHUQCRFS1NDUFV1
PROTEIN STRUCTURE
Preparing viewer…
PDB9CG3 Β· 2.96 Γ… Β· EM
View on RCSB β†—
RankingsWhere CYTB stands among ~20K protein-coding genes
  • #9,060of 20,598
    Most Researched48
  • #3,585of 5,498
    Most Pathogenic Variants5
Genes detectedCYTB
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
A novel protein CYTB-187AA encoded by the mitochondrial gene CYTB modulates mammalian early development.
PMID: 38703762
Cell Metab Β· 2024
1.00
2
In vivo screen of Plasmodium targets for mosquito-based malaria control.
PMID: 40399670
Nature Β· 2025
0.90
3
Genetic variation in the Cytb gene of human cerebral Taenia solium cysticerci recovered from clinically and radiologically heterogeneous patients with neurocysticercosis.
PMID: 24271046
Mem Inst Oswaldo Cruz Β· 2013
0.80
4
Deafness-associated tRNA
PMID: 38552739
J Biol Chem Β· 2024
0.70
5
Identification of cytochrome b5 CYTB-5.1 and CYTB-5.2 in C. elegans; evidence for differential regulation of SCD.
PMID: 29237573
Biochim Biophys Acta Mol Cell Biol Lipids Β· 2018
0.60