Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Mitochondrial CYTB gene

The mitochondrial gene MT-CYB encodes an enzyme responsible for electron transport on the inner mitochondrial membrane. It is the cytochome b oxidase, belonging to respiratory complex III. The gene is encoded by nucleotides 14747-15887. Diseases caused by mutations include Leber hereditary optic neuropathy, mitochondrial complex III deficiency, exercise intolerance, obesity, Parkinson disease, cardiomyopathy, colorectal cancer, epilepsy, sensorineural deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, and encephalopathy. The ensemble of all mitochondrial genes is tested if a mitochondrial disorder has to be diagnosed.

Genetests:

Research Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Leber hereditary optic neuropathy
MT-ATP6
MT-CO1
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND4
MT-ND4L
MT-ND5
MT-ND6

References:

1.

None (1984) Location of haem-binding sites in the mitochondrial cytochrome b.

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2.

González-Halphen D et al. (1988) Subunit arrangement in beef heart complex III.

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3.

Linke P et al. (1986) Reconstitution of ubiquinol-cytochrome-c reductase from Neurospora mitochondria with regard to subunits I and II.

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4.

Schägger H et al. (1986) Isolation of the eleven protein subunits of the bc1 complex from beef heart.

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5.

None (1985) The mitochondrial electron transport and oxidative phosphorylation system.

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6.

Wikström M et al. (1986) The semiquinone cycle. A hypothesis of electron transfer and proton translocation in cytochrome bc-type complexes.

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7.

Tzagoloff A et al. (1986) Assembly of the mitochondrial membrane system. Characterization of COR1, the structural gene for the 44-kilodalton core protein of yeast coenzyme QH2-cytochrome c reductase.

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8.

Oudshoorn P et al. (1987) Subunit II of yeast QH2:cytochrome-c oxidoreductase. Nucleotide sequence of the gene and features of the protein.

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9.

Weiss H et al. (1987) Structure and function of the mitochondrial ubiquinol: cytochrome c reductase and NADH: ubiquinone reductase.

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10.

Spiro AJ et al. (1970) A cytochrome-related inherited disorder of the nervous system and muscle.

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11.

Kennaway NG et al. (1984) Lactic acidosis and mitochondrial myopathy associated with deficiency of several components of complex III of the respiratory chain.

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12.

Hayes DJ et al. (1984) A new mitochondrial myopathy. Biochemical studies revealing a deficiency in the cytochrome b-c1 complex (complex III) of the respiratory chain.

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13.

Wikström M et al. (1981) Proton-translocating cytochrome complexes.

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14.

Darley-Usmar VM et al. (1983) Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis.

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15.

Brown MD et al. (1992) Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.

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16.

Morgan-Hughes JA et al. (1982) Mitochondrial encephalomyopathies: biochemical studies in two cases revealing defects in the respiratory chain.

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17.

None (1976) Composition, structure, and function of complex III of the respiratory chain.

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18.

Huoponen K et al. (1993) The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.

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19.

Bouzidi MF et al. () Decreased expression of ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance.

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20.

Heher KL et al. (1993) A maculopathy associated with the 15257 mitochondrial DNA mutation.

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21.

Johns DR et al. (1993) Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation.

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22.

Esposti MD et al. (1993) Mitochondrial cytochrome b: evolution and structure of the protein.

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23.

Mackey DA et al. (1996) Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy.

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24.

Dumoulin R et al. (1996) A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance.

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25.

Andreu AL et al. (1998) Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.

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26.

Andreu AL et al. (1999) A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.

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27.

De Coo IF et al. (1999) A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome.

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28.

None (1976) Possible molecular mechanisms of the protonmotive function of cytochrome systems.

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29.

None (1956) On the origin of cancer cells.

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30.

Wallace DC et al. (1986) Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two-dimensional-proteolytic digest gels.

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31.

Chomyn A et al. () Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase.

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32.

Giles RE et al. (1980) Maternal inheritance of human mitochondrial DNA.

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33.

Case JT et al. (1981) Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts.

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34.

Oliver N et al. (1984) Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system.

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35.

Oliver NA et al. (1982) Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction.

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36.

Attardi G et al. (1982) Identification and mapping of human mitochondrial genes.

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37.

Anderson S et al. (1981) Sequence and organization of the human mitochondrial genome.

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38.

Montoya J et al. (1981) Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.

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39.

Ojala D et al. (1981) tRNA punctuation model of RNA processing in human mitochondria.

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40.

Polyak K et al. (1998) Somatic mutations of the mitochondrial genome in human colorectal tumours.

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41.

Johns DR et al. (1991) Cytochrome b mutations in Leber hereditary optic neuropathy.

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42.

Schuelke M et al. (2002) Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation.

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43.

Andreu AL et al. (1999) Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA.

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44.

Fliss MS et al. (2000) Facile detection of mitochondrial DNA mutations in tumors and bodily fluids.

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45.

Andreu AL et al. (2000) A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.

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46.

Keightley JA et al. (2000) Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

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47.

Rana M et al. (2000) An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical production.

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48.

Legros F et al. (2001) Functional characterization of novel mutations in the human cytochrome b gene.

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49.

Wibrand F et al. (2001) Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene.

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50.

Okura T et al. (2003) Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population.

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51.

None (1976) Vectorial chemistry and the molecular mechanics of chemiosmotic coupling: power transmission by proticity.

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52.

Dasgupta S et al. (2008) Mitochondrial cytochrome B gene mutation promotes tumor growth in bladder cancer.

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53.

Crivellone MD et al. (1988) Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2-cytochrome c reductase complex.

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54.

NCBI article

NCBI 4519 external link
55.

OMIM.ORG article

Omim 516020 external link
56.

Orphanet article

Orphanet ID 123524 external link
Update: Aug. 14, 2020
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