| 背景信息 |
Double PHD fingers 2 (DPF2), also known as BAF45d, is a nuclear chromatin-associated protein that serves as an epigenetic reader within the SWI/SNF (BAF) remodeling complex. It contains a tandem double PHD finger motif that specifically recognizes and binds to modified histone H3 N-terminal tails, thereby facilitating the regulation of gene transcription, apoptosis, and NF-kappaB-dependent inflammatory responses. Clinically, DPF2 is implicated in hematologic malignancies, with recurrent gene rearrangements and altered expression observed in acute myeloid leukemia. Furthermore, germline variants in DPF2 have been associated with distinct neurodevelopmental and immunologic phenotypes, suggesting that it plays a dosage-sensitive role in both development and immune system function. Its ability to link chromatin modification to transcriptional output makes it a key regulator of cellular identity and homeostasis. |