Plant homeodomain finger protein 6 (PHF6)

Plant homeodomain finger protein 6 (PHF6) is a highly conserved nucleolar protein that plays a critical role in transcriptional regulation and chromatin remodeling through its two PHD-type zinc finger domains. It is known to interact with the Nucleosome Remodeling and Deacetylase (NuRD) complex and RNA polymerase I, thereby influencing ribosome biogenesis and the DNA damage response (UniProt Q8IWS0; PubMed 20436486). While germline mutations in PHF6 cause Börjeson-Forssman-Lehmann syndrome, an X-linked intellectual disability disorder, somatic mutations are frequently identified in hematological malignancies such as T-cell acute lymphoblastic leukemia (T-ALL) and acute myeloid leukemia (AML), where it typically acts as a tumor suppressor (PubMed 11850619; PubMed 20436486). Interestingly, emerging research suggests that PHF6 may exhibit oncogenic properties in certain solid tumors, such as hepatocellular carcinoma, where its overexpression promotes cell proliferation and migration (PubMed 30100712). Consequently, PHF6 mRNA is being explored as a therapeutic target for knockdown strategies, such as antisense oligonucleotides or siRNA, in specific oncogenic contexts, although no clinical drugs currently target this molecule.

Other names

Börjeson-Forssman-Lehmann syndrome proteinBFLSBORJCENP-31PHD finger protein 6