About: NQO1*2 Allele     Goto   Sponge   NotDistinct   Permalink

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AttributesValues
rdf:type
rdfs:label
  • NQO1*2 Allele
rdfs:subClassOf
OMIM_Number
  • 125860
GenBank_Accession_Number
  • NM_000903
Semantic_Type
  • Gene or Genome
Preferred_Name
  • NQO1*2 Allele
UMLS_CUI
  • C2698418
SNP_ID
  • rs1800566
EntrezGene_ID
  • 1728
Legacy_Concept_Name
  • NQO1_2_Allele
FULL_SYN
  • NQO1 p. P187SSYNCI
  • NQO1*2 AllelePTNCI
  • NQO1 p. Pro187SerSYNCI
  • NQO1*2SYNCI
  • NAD(P)H Dehydrogenase, Quinone 1*2 AlleleSYNCI
  • NQO1 C609TSYNCI
  • NQO1 c. 609 C-T AlleleSYNCI
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.NCI
DesignNote
  • 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)
code
  • C78134
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