PHF6
Description
The PHF6 (PHD finger protein 6) is a protein-coding gene located on chromosome X.
PHF6 is a human gene encoding a protein involved in transcriptional regulation. It belongs to the plant homeodomain (PHD)-like finger (PHF) family and contains two atypical PHD-type zinc finger domains. The protein localizes to the nucleolus. Mutations in PHF6 are linked to Börjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by various developmental abnormalities. Additionally, PHF6 mutations are prevalent in hematological malignancies like T-cell acute lymphoblastic leukemia (T-ALL) and acute myeloid leukemia (AML). The gene plays a role in regulating blood stem and progenitor cells, and its loss can contribute to the development of lymphoid neoplasms in conjunction with TLX3 overexpression.
PHF6 acts as a transcriptional regulator, associating with ribosomal RNA promoters and suppressing the production of ribosomal RNA (rRNA).
PHF6 is also known as BFLS, BORJ, CENP-31.
