Gene:MYH11: Difference between revisions
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inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11 | ||
The CBFβ–MYH11 fusion gene encodes a protein that exerts a dominant negative function by binding to the transcription factor encoded by RUNX1. The fusion protein encoded by CBFβ–MYH11 | The CBFβ–MYH11 fusion gene encodes a protein that exerts a dominant negative function by binding to the transcription factor encoded by ''RUNX1''. The fusion protein encoded by CBFβ–MYH11 competes (10-fold increased binding affinity) with normal CBFbeta protein for free Runx1 protein, leading to lowered and altered transcription of myeloid genes normally controlled by the CBFbeta and Runx1 transcription factors [2]. | ||
{| class="wikitable sortable" | {| class="wikitable sortable" | ||
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! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion | ! Copy Number Loss !! Copy Number Gain !! LOH !! Loss-of-Function Mutation !! Gain-of-Function Mutation !! Translocation/Fusion | ||
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