The APP gene provides instructions for making a protein called amyloid precursor protein. This protein is found in many tissues and organs, including the brain and spinal cord (central nervous system). Little is known about the function of amyloid precursor protein. Researchers speculate that it may bind to other proteins on the surface of cells or help cells attach to one another. Studies suggest that in the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.
Amyloid precursor protein is cut by enzymes to create smaller fragments (peptides), some of which are released outside the cell. Two of these fragments are called soluble amyloid precursor protein (sAPP) and amyloid beta (β) peptide. Recent evidence suggests that sAPP has growth-promoting properties and may play a role in the formation of neurons in the brain both before and after birth. The sAPP peptide may also control the function of certain other proteins by turning off (inhibiting) their activity. Amyloid β peptide is likely involved in the ability of neurons to change and adapt over time (plasticity). Other functions of sAPP and amyloid β peptide are under investigation.
Other Names
A4_HUMAN; AAA; ABETA; ABPP; AD1; amyloid beta (A4) precursor protein; amyloid beta-peptide; amyloid beta-protein precursor; amyloid precursor protein; APPI; cerebral vascular amyloid peptide; CVAP; PN-II; PN2; protease nexin 2; protease nexin-II
Related Genetics Topics
- Alzheimer disease — MedlinePlus Genetics
- Hereditary cerebral amyloid angiopathy — MedlinePlus Genetics
Identifiers
- NCBI Gene: 351
- OMIM: 104760
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
