DISEASES

Disease-gene associations mined from literature

Literature associating VPS33B and ARC syndrome

VPS33B [ENSP00000327650]

Vacuolar protein sorting-associated protein 33B; May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Mediates phagolysosomal fusion in macrophages. Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity. Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity); Belongs to the STXBP/unc-18/SEC1 family.

Synonyms:  VPS33B,  VPS33Bp,  hVPS33B,  B3KQF6,  F5H008 ...

Linkouts:  STRING  Pharos  UniProt  OMIM