KMT2A/MLLT3 Gene Fusion Probe Detection Kit
The KMT2A gene can be fused in-frame with more than 120 different partners, creating fusion proteins that are typically associated with poor prognosis leukemias. One of the most common fusion partners is the MLLT3 gene (also known as AF9), which is found in 30% and 13% of KMT2A rearranged AML and ALL respectively; this fusion is associated with an intermediate risk.
KMT2A gene encodes a transcriptional coactivator that plays an essential role in regulating gene expression during early development and hematopoiesis. The encoded protein contains multiple conserved functional domains. One of these domains, the SET domain, is responsible for its histone H3 lysine 4 (H3K4) methyltransferase activity which mediates chromatin modifications associated with epigenetic transcriptional activation. This protein is processed by the enzyme Taspase 1 into two fragments, MLL-C and MLL-N. These fragments reassociate and further assemble into different multiprotein complexes that regulate the transcription of specific target genes, including many of the HOX genes. Multiple chromosomal translocations involving this gene are the cause of certain acute lymphoid leukemias and acute myeloid leukemias. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010].
[Download] KMT2A/MLLT3 Gene Fusion Probe Instructions
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