DISEASES

Disease-gene associations mined from literature

AP3S1 disease associations

AP3S1 [ENSP00000325369]

AP-3 complex subunit sigma-1; Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals; Belongs to the adaptor complexes small subunit family.

Synonyms:  AP3S1,  AP3S1p,  hAP3S1,  F5H459,  Q92572 ...

Linkouts:  STRING  Pharos  UniProt  OMIM