PHD Finger Protein 6 (PHF6) Antibody

Background

PHF6 is a PHD finger domain-containing protein that functions in transcriptional regulation, chromatin remodeling, and cell cycle control. It interacts with components of chromatin-modifying complexes to facilitate gene silencing or activation, depending on cellular context. PHF6 is expressed in neural and hematopoietic tissues, where it regulates processes such as neurodevelopment, cell proliferation, and differentiation. Mutations in PHF6 are associated with Börjeson-Forssman-Lehmann syndrome, a neurodevelopmental disorder characterized by intellectual disability, epilepsy, and craniofacial abnormalities. PHF6 is also implicated in hematological cancers, including T-cell leukemia, where its loss of function disrupts chromatin organization and transcriptional regulation. Knockout studies demonstrate defects in neuronal development, impaired cell cycle progression, and increased genomic instability, highlighting its essential role in chromatin regulation, neurodevelopment, and disease pathogenesis.