Mitochondriales CYTB-Gen
Das mitochondriale Gen mit der offiziellen Bezeichnung MT-CYB kodiert ein Enzym des Elektronentransportes auf der inneren Mitochondrienmembran. Es ist die Cytochrom b-Oxidase, die zum respiratorischen Komplex III gehört. Das Gen wid von den Nukleotiden 14747-15887 kodiert. Mutationen können verschiedene mitochondriale Erkrankungen auslösen. Dazu gehören Lebersche Optikusatrophie, mitochondrialer Komplex III-Mangel, Belastungsinsuffizienz, Adipositas, Parkinsonismus, infantile histocytoide Kardiomyopathie, kolorektale Tumore, Epilepsie, Innenohrschwerhörigkeit, geistige Retardierung, Retinitis pigmentosa, Katarakt, Wachstumsverzögerung und Enzephalopathie. Alle mitochondrialen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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. |
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4. |
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7. |
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8. |
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9. |
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10. |
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11. |
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12. |
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13. |
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14. |
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15. |
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16. |
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17. |
None (1976) Composition, structure, and function of complex III of the respiratory chain.
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18. |
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19. |
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20. |
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21. |
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22. |
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23. |
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24. |
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25. |
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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. |
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30. |
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31. |
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32. |
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33. |
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34. |
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35. |
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36. |
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37. |
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38. |
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39. |
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40. |
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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
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55. |
OMIM.ORG article
Omim 516020
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56. |
Orphanet article
Orphanet ID 123524
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Update: 14. August 2020