Mitochondriales COX1-Gen
Das mitochondriale Gen mit der offiziellen Bezeichnung MT-CO1 kodiert ein Enzym des Elektronentransportes auf der inneren Mitochondrienmembran. Es ist die Untereinheit 1 der Cytochrom c-Oxidase, die zum respiratorischen Komplex IV gehört. Das Gen wid von den Nukleotiden 5904-7444 kodiert. Mutationen können verschiedene mitochondriale Erkrankungen auslösen. Dazu gehören Lebersche Optikusatrophie, sideroblastische Anämie, Cytochrom c-Oxidasemangel, kolorektale Tumore und rekurrente Myoglobinurie. Alle mitochondrialen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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Orphanet article
Orphanet ID 123512
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NCBI article
NCBI 4512
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OMIM.ORG article
Omim 516030
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Update: 14. August 2020