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GENATLAS PHENOTYPE
last update : 03/01/2007
Symbol MLLAL
Location 11q23.3
Name MLL-associated leukemia
Corresponding gene MLL
Main clinical features chromosome translocations disrupting the MLL gene are associated with various hematologic malignancies but are particularly common in infant and secondary therapy-related acute leukemias.
Genetic determination other
Function/system disorder hematology
Type malignancy
Gene product
Name the normal MLL-encoded protein plays a key role in the developmental regulation of gene expression, including Hox gene expression. In leukemia this function is subverted by breakage, recombination, and chimeric fusion with one of 40 or more alternative partner genes.
Mechanism(s)
Gene mutationChromosome rearrangementEffectComments
  translocation abnormal protein/gain of function acquired translocations leading to fusion genes with more than 40 possible alternative fusion partners
Remark(s) the potent impact of the MLL chimera can be attributed to one of 2 kinds of activity of the fusion partner: direct transcriptional transactivation or dimerization/oligomerization