<n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>NQO1 p. Pro187Ser</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm><n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>NAD(P)H Dehydrogenase, Quinone 1*2 Allele</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm><n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>NQO1*2</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm><n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>NQO1 c. 609 C-T Allele</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm><n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>NQO1 p. P187S</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm><n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>NQO1 C609T</n0:term-name><n0:term-group>SY</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm><n0:ComplexTerm xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:term-name>NQO1*2 Allele</n0:term-name><n0:term-group>PT</n0:term-group><n0:term-source>NCI</n0:term-source></n0:ComplexTerm>
nci:P97
<n0:ComplexDefinition xmlns:n0="http://ncicb.nci.nih.gov/xml/owl/EVS/ComplexProperties.xsd#"><n0:def-definition>Human NQO1*2 allele is located in the vicinity of 16q22.1 and is approximately 17 kb in length. The NQO1 *2 allele has a C609T substitution in the cDNA, which encodes NAD(P)H dehydrogenase [quinone] 1*2 protein that results in the amino acid change P187S. The NQO1*2 protein has both diminished catalytic activity and altered degradation by the ubiquitin-proteasomal system. Expression of this allele is associated with increased risk of benzene hematotoxicity, asthma and leukemias and decreased breast cancer survival.</n0:def-definition><n0:def-source>NCI</n0:def-source></n0:ComplexDefinition>
nci:P98
Increased risk of leukemia has been associated with the NQO1*2 allele and diminished NQO1 activity. Childhood leukemia (particularly with MLL fusions), adult leukemia (ALL, AML particularly with translocations or inversions) and secondary leukemias and myelodysplasias as a result of chemotherapy have been associated with the NQO1*2 polymorphism. Cells and tissues carrying the homozygous NQO1*2 allele have no detectable NQO1 activity and at best, trace levels of NQO1 protein. (Atlas of Genetics and Cytogenetics in Oncology and Haematology)