JARID2 encodes a protein that regulates histone methylases complexes. By forming a complex with Polycomb repressive complex 2 (PRC2), it plays a role in regulating embryonic cells. It is also essential in developmental of the central nervous system through its function in the Notch-1 pathway. JARID2 is expressed in neurons in human embryogenesis and in adults.
JARID2 haploinsufficiency secondary to nonsense-mediated messenger ARN decay leads to the neurodevelopmental syndrome described. Loss of function variants result in a similar syndrome.
JARID2