Target intelligence / Profile preview

PHD finger protein 6 (PHF6)

Target
PHF6
Molecular classification
Chromatin regulator, Epigenetic modifier, Transcriptional regulator, Zinc finger protein
01

Overview

PHD finger protein 6 (PHF6) is a highly conserved nuclear protein containing two atypical PHD (plant homeodomain)-like zinc finger domains. It belongs to the chromatin-regulating protein family and is implicated in transcriptional regulation and chromatin remodeling, acting through protein–protein interactions, recognition of modified histones, and direct DNA binding. PHF6 regulates chromatin state to enable or restrict access of transcription factors, controls transcription of target genes, and plays critical roles in both hematopoietic stem/progenitor cell homeostasis and neuronal development. Germline mutations in PHF6 cause Börjeson–Forssman–Lehmann syndrome, an X-linked intellectual disability disorder, with additional roles identified as a tumor suppressor in various leukemias. Loss of PHF6 leads to increased genomic and phenotypic plasticity, contributing to malignancy and drug resistance[1][2][3][4][5][6][7].

Other names
CENP-31KIAA1823MGC14797PHD-like zinc finger proteincentromere protein 31BFLSBORJ
02

Biological functions

Transcriptional regulationChromatin organization and remodelingHistone modification reader and writerCell cycle regulationRegulation of hematopoietic stem and progenitor cellsRegulation of neural development (neuronal migration)
03

Disease associations

Hematological malignancy (T-cell acute lymphoblastic leukemia, Acute Myeloid Leukemia)Intellectual disability (Börjeson–Forssman–Lehmann syndrome, BFLS)Tumor suppression (loss associated with cancer)Other neurodevelopmental disorders
04

Safety considerations

Potential for chromatin instability and increased cancer risk with loss or mutationUnintended disruption of stem cell/progenitor cell homeostasisPossibility of contributing to therapeutic resistance via chromatin plasticity in malignancy
05

Biomarkers

PHF6 mutation status (especially in leukemia)

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