Literature associating PACS1 and Schuurs-Hoeijmakers Syndrome
Phosphofurin acidic cluster sorting protein 1; Coat protein that is involved in the localization of trans-Golgi network (TGN) membrane proteins that contain acidic cluster sorting motifs. Controls the endosome-to-Golgi trafficking of furin and mannose-6-phosphate receptor by connecting the acidic-cluster-containing cytoplasmic domain of these molecules with the adapter-protein complex-1 (AP-1) of endosomal clathrin- coated membrane pits. Involved in HIV-1 nef-mediated removal of MHC-I from the cell surface to the TGN; Belongs to the PACS family.
Synonyms: PACS1, PACS1p, hPACS1, A0A024R5H6, B4DF77 ...