AP3S2
Description
The AP3S2 (adaptor related protein complex 3 subunit sigma 2) is a protein-coding gene located on chromosome 15.
AP-3 complex subunit sigma-2 is a protein encoded by the AP3S2 gene in humans. It interacts with AP3B1.
The AP-3 complex, which AP3S2 is a part of, is an adaptor-related complex that is not associated with clathrin. This complex is found in the Golgi region and other peripheral structures. It plays a role in the budding of vesicles from the Golgi membrane and may be directly involved in the transport of materials to lysosomes. Working with the BLOC-1 complex, AP-3 is needed to direct cargo into vesicles that form in cell bodies for delivery to neurites and nerve terminals.
AP3S2 is also known as AP3S3, sigma3b.
Associated Diseases
- type 2 diabetes mellitus
- schizophrenia 15
- Phelan-McDermid syndrome
- COVID-19
- autoimmune lymphoproliferative syndrome type 2B
