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

Mitochondriales ND4-Gen

Das mitochondriale Gen mit der offiziellen Bezeichnung MT-ND4 kodiert ein Enzym des Elektronentransportes auf der inneren Mitochondrienmembran. Es ist die Untereinheit 4 des respiratorischen Komplexes I. Das Gen wid von den Nukleotiden 10760-12137 kodiert. Mutationen in diesem Gen können verschiedene mitochondriale Erkrankungen auslösen. Dazu gehören das MELAS-Syndrom, Wolfram-Syndrom, Lebersche Optikusatrophie, Dystonie und der mitochondriale Komplex I-Mangel. 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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