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NQO1

Synonyms
DHQU, DIA4, DTD, NMOR1, NMORI, QR1
External resources
Summary
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.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
30
Likely pathogenic
74
VUS
11,873
Likely benign
255
Benign
0

Patient phenotypes

Proportions of phenotypes among 84 patients carrying pathogenic or likely pathogenic variants on NQO1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
34.5%
Abnormality of the nervous system
31%
Abnormality of the musculoskeletal system
23.8%
Abnormality of head or neck
15.5%
Abnormality of the cardiovascular system
10.7%
Abnormality of the ear
9.5%
Abnormality of the integument
9.5%
Abnormality of blood and blood-forming tissues
8.3%
Abnormality of the digestive system
8.3%
Abnormality of the genitourinary system
8.3%
Abnormality of the immune system
7.1%
Abnormality of limbs
6%
Abnormality of the endocrine system
6%
Abnormality of the respiratory system
6%
Growth abnormality
4.8%
Constitutional symptom
2.4%
Abnormal cellular phenotype
1.2%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Neoplasm
0%

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