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PPP3CA (protein phosphatase 3 catalytic subunit alpha) is a gene that tells the body how to make a protein called calcineurin, which plays an important role in how brain cells communicate. This protein helps with "recycling" the vesicles (tiny sacs that carry neurotransmitters) that carry signals between neurons. It is also important in brain development, connectivity, and regulating the brain's electrical activity.

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A PPP3CA diagnosis means there's a change (or "spelling mistake") in this gene. Depending on where this is, the calcineurin protein may not work at all (loss of function) or it may become overactive when it shouldn't (gain of function).

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Most individuals diagnosed with PPP3CA experience developmental delays, and any have abnormal brain activity. Other symptoms can vary based on where the mutation occurs in the gene.

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This kind of mutation is usually de novo, meaning it's a new change in the child's DNA that wasn't inherited from either parent. While most de novo changes are harmless, a change in the PPP3CA gene almost always affects brain function.​

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PPP3CA falls under a broader group of conditions called developmental and epileptic encephalopathies (DEEs).

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Doctors and researchers are still learning more about PPP3CA.  Every new diagnosis helps us deepen our understanding and brings us one step closer to better treatments.

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