APBB3
Description
The APBB3 (amyloid beta precursor protein binding family B member 3) is a protein-coding gene located on chromosome 5.
APBB3 encodes a protein that belongs to the APBB protein family. It is found in the cytoplasm and interacts with the intracellular domain of the Alzheimer's disease beta-amyloid precursor protein (APP), along with other APP-like proteins. This protein is believed to potentially influence the internalization of APP. Multiple transcript variations have been identified for this gene, encoding several different isoforms.
This protein may play a role in regulating the uptake of amyloid-beta precursor protein into cells.
APBB3 is also known as FE65L2, SRA.
Associated Diseases
- lysosomal storage disease
- multiple sclerosis
- Alzheimer disease
- Parkinson disease
- linear and whorled nevoid hypermelanosis
- eosinophil peroxidase deficiency
- neutropenia, severe congenital, 1, autosomal dominant
- ichthyosis prematurity syndrome
