APBB2

APBB2, also known as amyloid beta precursor protein-binding family B member 2, is a protein-encoding gene located on chromosome 1 in humans. It plays a significant role in cellular processes, particularly in the regulation of amyloid precursor protein (APP) metabolism, which is closely linked to neurodegenerative diseases such as Alzheimer’s disease.

The APBB2 gene was first identified through its interaction with amyloid precursor protein (APP), a transmembrane protein involved in neuronal signaling and synaptic function. APBB2 belongs to the Fe65 family of adaptor proteins, which facilitate protein-protein interactions and influence intracellular signaling pathways. It binds to the APP intracellular domain (AICD) and helps mediate its effects on gene transcription, particularly through interactions with histone acetyltransferases and other nuclear factors.

Studies suggest that APBB2 may contribute to neuronal development and plasticity by modulating APP processing. Dysregulation of APBB2 or its associated pathways has been implicated in abnormal amyloid-beta (Aβ) accumulation, a hallmark of Alzheimer’s pathology. Research also indicates that APBB2 may influence other cellular processes, including cell adhesion, migration, and survival, though its broader physiological roles remain under investigation.

APBB2 is conserved across species, with homologs found in mammals and other vertebrates, reflecting its evolutionary importance. Experimental models, including knockout and overexpression studies, have provided insights into its functional mechanisms, though further research is needed to clarify its precise contributions to health and disease. Understanding APBB2’s role may offer potential therapeutic targets for neurodegenerative disorders and related conditions.