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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