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last update : 19/12/2007
Symbol BCR-ABL
Location 22q11 or 9q34
Name Philadelphia chromosome
Other name(s) chronic myeloid leukemia (MIM 608232)
Corresponding gene ABL1 , BCR
Other symbol(s) CML, Ph1
Main clinical features
  • chronic myeloid leukemia (CML) or T cell acute lymphoblastic/myeloblastic leukemia, clonal myeloproliferative disorders of a pluripotent stem cell with a specific cytogenetic abnormality, thePhiladelphia chromosome (Ph)
  • Genetic determination
    Function/system disorder hematology
    Type malignancy
    Gene product
    Name BCR-ABL fusion gene encoding a tyrosine kinase with two alternative chimeric proteins p210 (BCR-ABL) and p185 (BCR-ABL)
    Gene mutationChromosome rearrangementEffectComments
      translocation abnormal protein/gain of function somatic t(9;22)(q34.1;q11.21)
      translocation abnormal protein/gain of function various cytogenetic forms with more or less complex rearrangements in BCR-ABL +, Ph1 - leukemias
    Remark(s) mRNA interacting with the xeroderma pigmentosum group B protein XPB/ERCC3