Automated description from the Alliance of Genome Resources (Release 7.4.0)
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 and HOPS complex. Predicted to be active in lysosome and synaptic vesicle. 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; kidney disease; and progressive familial intrahepatic cholestasis. Orthologous to human VPS33B (VPS33B late endosome and lysosome associated).
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