PRDM16 is a zinc finger transcription factor and contains an N-terminal PR domain. The reciprocal translocation t(1;3)(p36;q21) occurs in a subset of myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). This gene is located near the 1p36.3 breakpoint and has been shown to be specifically expressed in the t(1:3)(p36, q21)-positive MDS/AML. The translocation results in the overexpression of a truncated version of this protein that lacks the PR domain, which may play an important role in the pathogenesis of MDS and AML. Recent studies have shown that PRDM16 normally acts as a Smad3 binding protein that may be important for the development of orofacial structures through modulation of the TGF-beta signaling pathway. Other experiments have indicated that PRDM16 controls a bidirectional cell fate switch between skeletal myoblasts and brown fat cells.
