anti- PHF21A antibody

Background

PHF21A is a PHD finger-containing protein involved in chromatin remodeling and transcriptional repression through its interactions with histone modifications. It is a component of the BHC complex, where it facilitates histone deacetylation and demethylation to suppress gene expression. PHF21A plays an essential role in neural development, where it regulates genes involved in neuronal differentiation, synaptic plasticity, and brain formation. It binds to unmethylated CpG islands and recruits chromatin modifiers to maintain gene silencing in a tissue-specific manner. Dysregulation or mutations in PHF21A are associated with neurodevelopmental disorders, including intellectual disability and Potocki-Shaffer syndrome, which manifest as craniofacial abnormalities and cognitive impairments. Knockout studies reveal disrupted neuronal differentiation, altered gene silencing, and developmental defects, highlighting its role in transcriptional repression, neurodevelopment, and chromatin regulation.