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16p11.2 CNV gene Doc2α functions in neurodevelopment and social behaviors through interaction with Secretagogin.

Proximal Deletion, Proximal Duplication,

All,

Researchers studying a gene called Doc2α, located within the 16p11.2 region, found that when this gene is missing in mice, it causes social and repetitive behavior problems similar to autism, as well as abnormal brain cell development—and that these effects work through a specific protein interaction that may point to new treatment targets for families affected by 16p11.2 deletions or duplications.

Social,