APBA3
Description
The APBA3 (amyloid beta precursor protein binding family A member 3) is a protein-coding gene located on chromosome 19.
APBA3, encoded by the APBA3 gene in humans, is a member of the X11 protein family. It functions as an adapter protein, interacting with the amyloid precursor protein implicated in Alzheimer's disease. APBA3 is thought to be involved in signal transduction processes and is considered a candidate gene for Alzheimer's disease. It has been shown to interact with Amyloid precursor protein.
APBA3 potentially influences the processing of amyloid-beta precursor protein (APP), impacting the production of APP-beta. Additionally, it may enhance HIF1A activity in macrophages by suppressing HIF1AN activity.
APBA3 is also known as MGC:15815, X11L2, mint3.
Associated Diseases
- cancer
- hyper-IgE recurrent infection syndrome 5, autosomal recessive
- type 2 diabetes mellitus
- lysosomal storage disease
