Vps33b - vacuolar protein sorting 33B Gene

About Vps33b

Summary

Involved in megakaryocyte development; platelet alpha granule organization; and regulation of platelet aggregation. Acts upstream of or within several processes, including Collagen fibril organization; Collagen metabolic process; and peptidyl-lysine hydroxylation. Predicted to be located in Golgi apparatus; cytoplasmic vesicle; and perinuclear region of cytoplasm. Predicted to be part of CORVET complex. Predicted to be active in lysosome. Is expressed in dorsal root ganglion; facial ganglion; glossopharyngeal ganglion; trigeminal ganglion; and vestibulo-cochlear ganglion. Used to study ARC syndrome. Human ortholog(s) of this gene implicated in arthrogryposis multiplex congenita; arthrogryposis, renal dysfunction, and cholestasis 1; cholestasis; and kidney disease. Orthologous to human VPS33B (VPS33B late endosome and lysosome associated). [provided by Alliance of Genome Resources, Apr 2022]