APBB1

Protein APBB1 PDB 2e45

APBB1

APBB1 is a gene that encodes a protein known as amyloid beta precursor protein-binding family B member 1. This protein is involved in various cellular processes, including cell adhesion, signaling, and synaptic function. The gene is located on chromosome 11 in humans.

Function

The primary function of APBB1 is to bind to the amyloid beta precursor protein (APP) and regulate its processing. This interaction plays a crucial role in the production of amyloid beta peptides, which are implicated in the pathogenesis of Alzheimer's disease. Additionally, APBB1 is involved in intracellular signaling pathways and contributes to the maintenance of synaptic plasticity.

Structure

APBB1 consists of several domains, including phosphotyrosine-binding (PTB) domains and proline-rich regions. These domains facilitate the interaction of APBB1 with various binding partners, such as APP and cytoskeletal proteins.

Clinical Significance

Mutations in the APBB1 gene have been associated with neurodegenerative disorders, particularly Alzheimer's disease. Dysregulation of APBB1 function can lead to abnormal processing of APP and the accumulation of toxic amyloid beta peptides in the brain.

Interactions

APBB1 interacts with a variety of proteins involved in cell signaling and synaptic function. These interactions modulate the activity of APBB1 and influence its role in cellular processes.