Full name: vacuolar protein sorting 33B

Gene type: protein coding

RefSeq status: VALIDATED

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]

Expression: Ubiquitous expression in CNS E18 (RPKM 8.7), CNS E14 (RPKM 7.5) and 28 other tissues

Gene size: 21959bp

Exon count: 23