" /> NQO1*2 Allele - CISMeF





Preferred Label : NQO1*2 Allele;

NCIt synonyms : NQO1 p. Pro187Ser; NQO1 c. 609 C-T Allele; NQO1 C609T; NQO1*2; NQO1 p. P187S; NAD(P)H Dehydrogenase, Quinone 1*2 Allele; NQO1 2 Allele;

NCIt 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.;

NCIt note : 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);

GenBank Accession Number : NM_000903;

SNP ID : rs1800566;

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12/05/2024


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