The MT-CYB gene is located on the p arm of mitochondrial DNA in position 12 and spans 1,140 base pairs. [5] The gene produces a 42.7 kDa protein named cytochrome b composed of 380 amino acids. [6] [7] Cytochrome b is an integral membrane protein with hydrophobic properties.

The MT-CYB gene provides instructions for making a protein called cytochrome b. This protein plays a key role in structures called mitochondria, which convert the energy from food into a form that cells can use. Learn about this gene and related health conditions.

Mar 30, 2025 · MT-CYB (Mitochondrially Encoded Cytochrome B) is a Protein Coding gene. Diseases associated with MT-CYB include Cardiomyopathy, Infantile Histiocytoid and Leber Hereditary Optic Neuropathy, Modifier Of. Among its related pathways are Respiratory electron transport and Electron transport chain: OXPHOS system in mitochondria.

Complex III, ubiquinone–cytochrome c oxidoreductase, is composed of 11 subunits of which only one (cytochrome b) is encoded by the mitochondrial genome. Cytochrome B (MT-CYB), along with cytochrome c1 (CYC1) and the Rieske protein (UQCRFS1) represent the catalytic center.

Cytochrome b (MTCYB) is the only mitochondrial DNA (mtDNA) encoded subunit of respiratory Complex III (ubiquinol:ferrocytochrome c oxidoreductase, or cytochrome bc1, complex, EC 1.10.2.2).

Mutations in mitochondrial DNA, particularly in MT-CYB coding for cytochrome B in complex III (CIII), have been associated with isolated hypertrophic cardiomyopathy (HCM). We hypothesized that MT-CYB mutations might play an important causal or modifying role in HCM.

Apr 30, 2024 · Clinical resource with information about MT-CYB, Juvenile myopathy, encephalopathy, lactic acidosis AND stroke, Leber optic atrophy, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Various studies described mutations in protein-encoding mtDNA genes, such as cytochrome-b, manifesting with CM. A detailed clinical, biochemical, and molecular genetic analysis was performed in a 40-year-old male with dilated CM (DCM) to detect the underlying mtDNA defect.

Feb 8, 2025 · Title: Association between the single nucleotide variants of the mitochondrial cytochrome B gene (MT-CYB) and the male infertility. Liver mitochondrial DNA damage and genetic variability of Cytochrome b - a key component of the respirasome - drive the severity of fatty liver disease.

Chromosome MT: 14,747-15,887 forward strand. This gene has 1 transcript (splice variant) and is associated with 5 phenotypes. Sorry, the page request "/Homo_sapiens/Component/Gene/Summary/gene_summary?g=ENSG00000198727;r=MT:14747-15887;t=ENST00000361789;db=core;time=1745214488815.815" failed to load.