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vacuolar protein sorting-associated protein 33B (VPS33B, hVPS33B)

Function: 1) vesicle-mediated protein trafficking to lysosomal compartments 2) membrane docking/fusion reactions of late endosomes/lysosomes Compartment: - late endosomal membrane - peripheral membrane - lysosomal membrane Expression: -ubiquitous - highly expressed in testis -expression in the lung Pathogy: - defects in VPS33B are the cause of arthrogryposis-renal dysfunction-cholestasis syndrome

Related

arthrogryposis-renal dysfunction-cholestasis syndrome

General

vacuolar protein sorting-associated protein (VPS)

Properties

SIZE: MW = 71 kD entity length = 617 aa COMPARTMENT: lysosome cytoplasm endosome

Database Correlations

OMIM correlations MORBIDMAP 608552 UniProt Q9H267 Pfam PF00995

References

UniProt :accession Q9H267