Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Defects in MT-CYB are a rare cause of mitochondrial dysfunction underlying different myopathies. They include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy (HCM), and sporadic mitochondrial myopathy (MM). In mitochondrial myopathy, exercise intolerance is the predominant symptom. Additional features include lactic acidosis, muscle weakness and/or myoglobinuria. Defects in MTCYB are also found in cases of exercise intolerance accompanied by deafness, intellectual disability, retinitis pigmentosa, cataract, growth retardation, epilepsy (multisystem disorder).
Cardiomyopathy, infantile histiocytoid
CMIH
A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.
None
The disease is caused by variants affecting the gene represented in this entry.
Leber hereditary optic neuropathy
LHON
A maternally inherited form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. Cardiac conduction defects and neurological defects have also been described in some LHON patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.
None
The disease is caused by variants affecting distinct genetic loci, including the gene represented in this entry.
Belongs to the cytochrome b family.
COB, CYTB, MTCYB, MT-CYB, Cytochrome b, Complex III subunit 3, Complex III subunit III, Cytochrome b-c1 complex subunit 3, Ubiquinol-cytochrome-c reductase complex cytochrome b subunit
Proteins
Metabolism
42718Da
We found 2 products in 2 categories
ab198860