Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome.
Monica Penon-PortmannSarah K WestburyLing LiFred G PlutheroRichard J Y LiuHelen H Y YaoRyan S Q GengNeil WarnerAleixo M MuiseStephanie Lotz-EsquivelMarianella HowellPablo Saborío-ChaconSara Fernández-RojasManuel Saborio-RocafortMildred Jiménez-HernándezCarolina Wang-ZunigaWalter Cartín-SánchezJoseph T C ShiehRamsés Badilla-PorrasWalter H A KahrPublished in: Journal of thrombosis and haemostasis : JTH (2022)
These results indicate that stable expression of VPS16B in platelets, their precursor megakaryocytes, and other cells is dependent on VPS33B. We suggest that systematic evaluation of primary cells from patients with a range of VPS33B and VIPAS39 variants would help to elucidate the interactions and functions of these proteins.