APBB3

Protein APBB3 PDB 2DYQ

APBB3

APBB3, also known as Amyloid beta A4 precursor protein-binding family B member 3, is a gene that encodes a protein involved in the regulation of amyloid precursor protein metabolism. This gene is located on chromosome 5 in humans.

Function

The APBB3 protein is a member of the amyloid beta A4 precursor protein-binding family, which plays a role in the processing of amyloid precursor protein. It is involved in the regulation of amyloid beta production, a key component in the pathogenesis of Alzheimer's disease.

Structure

The APBB3 gene consists of several exons that encode a protein with multiple domains, including a phosphotyrosine-binding (PTB) domain. This domain is responsible for binding to the cytoplasmic tail of amyloid precursor protein.

Clinical Significance

Mutations in the APBB3 gene have been associated with an increased risk of developing Alzheimer's disease. Studies have shown that alterations in APBB3 expression levels can affect amyloid beta production and contribute to the progression of the disease.

Interactions

APBB3 has been found to interact with various proteins involved in amyloid precursor protein metabolism, such as APP and BACE1. These interactions play a crucial role in the processing and clearance of amyloid beta peptides.