NQO1 Chromosome 16

NAD(P)H quinone dehydrogenase 1
2 variants 2 Health Risk

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What This Gene Does
This gene is a member of the NAD(P)H dehydrogenase (quinone) family and encodes a cytoplasmic 2-electron reductase. This FAD-binding protein forms homodimers and reduces quinones to hydroquinones. This protein's enzymatic activity prevents the one electron reduction of quinones that results in the production of radical species. Mutations in this gene have been associated with tardive dyskinesia (TD), an increased risk of hematotoxicity after exposure to benzene, and susceptibility to various forms of cancer. Altered expression of this protein has been seen in many tumors and is also associated with Alzheimer's disease (AD). Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Flavoproteins
Locus Type
gene with protein product
Location
16q22.1
Ensembl
ENSG00000181019
Key Variants
All Variants (2)
RSID Category Clinical Significance Conditions
RS1555537451 Health Risk Likely pathogenic
RS2038036994 Health Risk Likely pathogenic
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