VPS33B
MIM.608552 15q26
In yeast, the Vps proteins are involved in Golgi-to-lysosome trafficking. Mutations in class C Vps proteins, which includes Vps33, result in the most severe vacuolar protein sorting and morphology defects.
Pathology
germline mutations in ARC syndrome (MIM.208085)
References
Carim, L.; Sumoy, L.; Andreu, N.; Estivill, X.; Escarceller, M. :Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b. Cytogenet. Cell Genet. 89: 92-95, 2000. PubMed ID : #10894945#
Eastham, K. M.; McKiernan, P. J.; Milford, D. V.; Ramani, P.; Wyllie, J.; van’t Hoff, W.; Lynch, S. A.; Morris, A. A. M. : ARC syndrome: an expanding range of phenotypes. Arch. Dis. Child. 85: 415-420, 2001. PubMed ID : #11668108#
Gissen, P.; Johnson, C. A.; Morgan, N. V.; Stapelbroek, J. M.; Forshew, T.; Cooper, W. N.; McKiernan, P. J.; Klomp, L. W. J.; Morris, A. A. M.; Wraith, J. E.; McClean, P.; Lynch, S. A.; and 12 others : Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Nature Genet. 36: 400-404, 2004. PubMed ID : #15052268#
Gissen, P.; Tee, L.; Johnson, C. A.; Genin, E.; Caliebe, A.; Chitayat, D.; Clericuzio, C.; Denecke, J.; Di Rocco, M.; Fischler, B.; FitzPatrick, D.; Garcia-Cazorla, A.; and 9 others : Clinical and molecular genetic features of ARC syndrome. Hum. Genet. 120: 396-409, 2006. PubMed ID : #16896922#
Huizing, M.; Didier, A.; Walenta, J.; Anikster, Y.; Gahl, W. A.; Kramer, H. Molecular cloning and characterization of human VPS18, VPS11, VPS16, and VPS33. Gene 264: 241-247, 2001. PubMed ID : #11250079#
Horslen, S. P.; Quarrell, O. W. J.; Tanner, M. S. : Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review. J. Med. Genet. 31: 62-64, 1994. PubMed ID : #8151641#