Literature associating AP1S3 and salt and pepper syndrome
AP1S3 [ENSP00000379891]
AP-1 complex subunit sigma-3; Subunit of clathrin-associated adaptor protein complex 1 that plays a role in protein sorting in the late-Golgi/trans-Golgi network (TGN) and/or endosomes. The AP complexes mediate both the recruitment of clathrin to membranes and the recognition of sorting signals within the cytosolic tails of transmembrane cargo molecules. Involved in TLR3 trafficking .
Synonyms: AP1S3, AP1S3p, hAP1S3, B8ZZZ1, C9JZK4 ...