DISEASES

Disease-gene associations mined from literature

Literature associating AP1S2 and basal ganglia disease

AP1S2 [ENSP00000444957]

Clathrin assembly protein complex 1 sigma-1B 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; X-linked mental retardation

Synonyms:  AP1S2,  AP1S2p,  hAP1S2,  A0A024RBX8,  A6NH01 ...

Linkouts:  STRING  Pharos  UniProt