PPP2R5D-Related Intellectual Disability

Summarized by Plex Health
Last Updated: 02 May 2022

PPP2R5D-related intellectual disability is a neurological disorder defined by modest to serious developing delay and intellectual disability. Most people with PPP2R5D-related intellectual disability have unusually large head size, and some have other unusual facial features, including a famous forehead, commonly spaced eyes, and eyes that slant downward. Mutations in the PPP2R5D genetics have been found to cause PPP2R5D-related intellectual disability. The B56 protein is one item of an enzyme called protein phosphatase 2A, which removes phosphate groups, consisting of collections of oxygen and phosphorus atoms, from specific proteins. PP2A enzymes having the B56 protein are found primarily in the brain, where they are believed to play functions in the normal development and function of nerve cells. Abnormal or minimized PP2A enzyme activity is thought to disrupt signaling paths in neurons, harming their normal development and operating, which might underlie intellectual disability and other neurological features of PPP2R5D-related intellectual disability.

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