Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hereditäre Optikusneuropathie Leber
MT-ATP6
MT-CO1
MT-CO3
MT-CYB
MT-ND1
MT-ND2
MT-ND4
MT-ND4L
MT-ND5
MT-ND6

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Update: 14. August 2020
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