Disease-gene associations mined from literature

Literature associating PACS1 and early infantile epileptic encephalopathy 66

PACS1 [ENSP00000316454]

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM