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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"

Mutations in the PPP2R5D gene have been found to cause PPP2R5D-related intellectual disability. This gene provides instructions for making a protein called B56-delta (B56δ). The B56δ protein is one piece of an enzyme called protein phosphatase 2A (PP2A), which removes phosphate groups, consisting of clusters of oxygen and phosphorus atoms, from certain proteins. This process, called dephosphorylation, helps control whether the protein is turned on or off. PP2A enzymes containing the B56δ protein are found mainly in the brain, where they are thought to play roles in the normal development and function of nerve cells (neurons).

PPP2R5D gene mutations are thought to result in the production of an altered B56δ protein. Although the effects of these variations are unclear, researchers suspect that they change or impair the activity of the PP2A enzyme. Abnormal or reduced PP2A enzyme activity is thought to disrupt signaling pathways in neurons, impairing their normal development and functioning, which may underlie intellectual disability and other neurological features of PPP2R5D-related intellectual disability.

MedlinePlus Genetics: Causes

","key":"forms","title":"What causes PPP2R5D-related intellectual disability?"},{"bodyHtml":"

Source: MedlinePlus Genetics

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