APLP2 Gene - Amyloid Beta Precursor Like Protein 2 | Function, Mutations & Disease

APLP2 (Amyloid Beta Precursor Like Protein 2) is a member of the amyloid precursor protein (APP) family, which includes APP and APLP1. It encodes a transmembrane glycoprotein involved in synaptic adhesion, neurite outgrowth, and cell signaling. APLP2 is ubiquitously expressed and plays a role in the regulation of synaptic plasticity and neurogenesis. It is processed by secretases similar to APP, generating soluble fragments that may have neuroprotective functions. Mutations and altered expression of APLP2 have been implicated in Alzheimer's disease and certain cancers.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Alzheimer's disease - presenilin pathway

• APP processing by gamma-secretase

• Integrin signaling pathway

APLP2 is a type I transmembrane glycoprotein of 763 amino acids, belonging to the APP family. It contains a large extracellular domain with E1 and E2 subdomains, a Kunitz-type protease inhibitor (KPI) domain, and a short cytoplasmic tail with a YENPTY motif involved in endocytosis and signaling. The protein is cleaved by alpha-, beta-, and gamma-secretases, generating soluble N-terminal fragments and a C-terminal fragment that may be further processed. APLP2 is widely expressed in neural and non-neural tissues, where it mediates cell-cell adhesion, neurite outgrowth, and synaptic plasticity. Its structure and processing are similar to APP, but it lacks the amyloid beta peptide region, thus not directly contributing to amyloid plaque formation.