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

Mitochondrial CYTB gene

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:

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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