DAXX


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DAXX

A gene on chromosome 6p21.3 that encodes a multifunctional protein located in the cytoplasm and nucleus which, as an adaptor protein in the MDM2-DAXX-USP7 complex, regulates RING-finger E3 ligase ubiquitination activity. It is thought to mediate activation of the JNK pathway and apoptosis via MAP3K5, in response to signalling from TNFRSF6 and TGFBR2.
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Of the samples studied, mutations in DAXX and ATRX were found in 25 percent and 17.
The up-regulated genes include HIAP1, CRAF1, TRAF6, CASP1, CASP2, CASP3, CASP4, HPRT, GADD45, MCL-1, NIP1, BCL2L2, TRAP3, GSTP1, DAXX, PIG11, UBC, PIG3, PCNA, CDC10, JNK1 and RBP2.
While mutations in MEN-1 have been previously associated with other cancers including familial pancreatic neuroendocrine cancer, mutations in DAXX and ATRX have not previously been associated with cancer.