DISEASES

Disease-gene associations mined from literature

Literature associating AP1S1 and MEDNIK syndrome

AP1S1 [ENSP00000336666]

Clathrin assembly protein complex 1 sigma-1A small chain; 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.

Synonyms:  AP1S1,  AP1S1p,  hAP1S1,  A0A024QYT6,  AP1S1-001 ...

Linkouts:  STRING  Pharos  UniProt  OMIM