APBA1
Description
The APBA1 (amyloid beta precursor protein binding family A member 1) is a protein-coding gene located on chromosome 9.
APBA1, or Amyloid beta A4 precursor protein-binding family A member 1, is a neuronal adaptor protein encoded by the APBA1 gene. It interacts with the Alzheimer's disease amyloid precursor protein (APP), stabilizing it and inhibiting the production of proteolytic APP fragments, including the A beta peptide found in the brains of Alzheimer's disease patients. This suggests APBA1's involvement in signal transduction processes. It is also thought to be involved in vesicular trafficking in the brain, forming a complex that could link synaptic vesicle exocytosis to neuronal cell adhesion. APBA1 interacts with proteins like KCNJ12, CCS, CASK, and Amyloid precursor protein.
APBA1 plays a role in synaptic vesicle exocytosis by binding to Munc18-1, a key protein in the process. It may also influence the processing of amyloid-beta precursor protein (APP), potentially affecting the formation of amyloid-beta. APBA1 is part of the LIN-10-LIN-2-LIN-7 complex, which interacts with the motor protein KIF17 to transport vesicles containing NMDA receptor subunit NR2B along microtubules.
APBA1 is also known as D9S411E, LIN10, MINT1, X11, X11A, X11ALPHA.
Associated Diseases
- schizophrenia
- rectal neuroendocrine tumor G1
- cervical squamous intraepithelial neoplasia
- type 2 diabetes mellitus
- Friedreich ataxia
