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FAM57B is a modulator of ceramide synthesis that regulates sphingolipid homeostasis and synaptic composition in the developing brain

Proximal Deletion,

All,

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.

Pathophysiology,