ANP32B

The protein functions as a histone chaperone that regulates transcription, controls cell proliferation and apoptosis, and facilitates nucleocytoplasmic transport of specific mRNAs. Mutations cause autosomal recessive developmental and epileptic encephalopathy with movement abnormalities, typically presenting in infancy with seizures, developmental delays, and progressive neurological deterioration. This gene is highly constrained against loss-of-function variants in the general population, indicating that complete loss of protein function is likely not tolerated.