FAM57B is a modulator of ceramide synthesis that regulates sphingolipid homeostasis and synaptic composition in the developing brain
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Researchers discovered that a gene called FAM57B, located in the 16p11.2 proximal deletion region, plays a key role in controlling brain fats (lipids) that affect how brain cells are built and communicate, helping explain why some children with 16p11.2 deletion experience epilepsy, autism, and intellectual disability.