NQO2

Chr 6

N-ribosyldihydronicotinamide:quinone dehydrogenase 2

Also known as: DHQV, DIA6, NMOR2, QR2

NCBI Gene: 4835 ENSG00000124588 UniProt: P16083

The NQO2 protein is a cytosolic flavoprotein that catalyzes two-electron reduction of quinones and functions in detoxification pathways and vitamin K-dependent processes including prothrombin synthesis. Mutations are associated with breast cancer susceptibility with autosomal dominant inheritance. The gene is not highly constrained against loss-of-function variants (pLI near 0, LOEUF 1.48).

ResearchSummary from RefSeq, OMIM, UniProt

This gene encodes a member of the thioredoxin family of enzymes. It is a cytosolic and ubiquitously expressed flavoprotein that catalyzes the two-electron reduction of quinone substrates and uses dihydronicotinamide riboside as a reducing coenzyme. Mutations in this gene have been associated with neurodegenerative diseases and several cancers. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.48

LOEUF

Mechanism· predicted

Some data sources returned errors (1)

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