APP Gene

Amyloid precursor protein (APP) is expressed in the synapses of neurons and is thought to be responsible for forming and repairing synapses.

Amyloid precursor protein (APP) is widely expressed in tissues, and is particularly expressed in the synapses of neurons. APP is thought to be responsible for forming and repairing synapses. Mutations of the APP gene have been associated with Alzheimer’s disease, and with early onset in particular. A primary cause of Alzheimer’s disease is deposits of a protein called amyloid-beta as plaques in the brain. Beta amyloid is released following cleavage of APP at a number of points, and mutations can lead to an increase in production of the protein. More than 20 mutations of the APP gene have been found to cause early onset Alzheimer’s disease.