DISEASES

Disease-gene associations mined from literature

Literature associating AP3D1 and ocular albinism

AP3D1 [ENSP00000347416]

Adaptor-related protein complex 3, delta 1 subunit; 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. Involved in process of CD8+ T-cell and NK cell degranulation. 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 (By similarity); Belongs to the adaptor complexes large subunit family.

Synonyms:  AP3D1,  AP3D1p,  hAP3D1,  AP3D1-001,  AP3D1-002 ...

Linkouts:  STRING  Pharos  UniProt