PHF21A : PHD finger protein 21A
Description
The PHF21A (PHD finger protein 21A) is a protein-coding gene located on chromosome 11.
The PHF21A gene provides instructions for making a protein that plays a role in histone demethylation, a process that controls gene activity. Histones are proteins that bind to DNA and give chromosomes their shape. Removing methyl groups from histones (demethylation) helps to turn off genes. The PHF21A protein attaches to already demethylated histones, potentially maintaining their demethylated state and keeping genes switched off. PHF21A seems to be particularly important for regulating genes involved in the development of nerve cells in the brain and facial structures.
PHF21A is a component of the BHC complex, a corepressor complex that silences the expression of neuron-specific genes in non-neuronal cells. The BHC complex is recruited to specific DNA regions called RE1/NRSE sites by the REST protein. The complex then modifies chromatin by removing acetyl and methyl groups from histones, effectively suppressing gene activity. Within the BHC complex, PHF21A may act as a scaffold protein, holding other complex components together. It can also regulate the demethylation of histone H3 at Lysine 4 by inhibiting the activity of the KDM1A enzyme, suggesting a role in controlling the timing and extent of demethylation.
PHF21A is also known as BHC80, BM-006, IDDBCS, NEDMS.
Associated Diseases
- Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures
- Potocki-Shaffer syndrome
