Disease-gene associations mined from literature

Literature associating AP3B2 and Lambert-Eaton myasthenic syndrome

AP3B2 [ENSP00000440984]

Clathrin assembly protein complex 3 beta-2 large chain; Subunit of non-clathrin- and clathrin-associated adaptor protein complex 3 (AP-3) 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. AP-3 appears to be involved in the sorting of a subset of transmembrane proteins targeted to lysosomes and lysosome-related organelles. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals; Clathrin/coatomer adaptor, adaptin-like, N-terminal domain containing

Synonyms:  AP3B2,  AP3B2p,  hAP3B2,  AP3B2-001,  AP3B2-002 ...

Linkouts:  STRING  Pharos  UniProt