Gene Review:
VPS33B - vacuolar protein sorting 33 homolog B (yeast)
Homo sapiens
Synonyms:
FLJ14848, Vacuolar protein sorting-associated protein 33B, hVPS33B
- Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights. Gissen, P., Johnson, C.A., Gentle, D., Hurst, L.D., Doherty, A.J., O'Kane, C.J., Kelly, D.A., Maher, E.R. Hum. Mol. Genet. (2005)
- VPS33B mutation with ichthyosis, cholestasis, and renal dysfunction but without arthrogryposis: incomplete ARC syndrome phenotype. Bull, L.N., Mahmoodi, V., Baker, A.J., Jones, R., Strautnieks, S.S., Thompson, R.J., Knisely, A.S. J. Pediatr. (2006)
- Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome. Gissen, P., Johnson, C.A., Morgan, N.V., Stapelbroek, J.M., Forshew, T., Cooper, W.N., McKiernan, P.J., Klomp, L.W., Morris, A.A., Wraith, J.E., McClean, P., Lynch, S.A., Thompson, R.J., Lo, B., Quarrell, O.W., Di Rocco, M., Trembath, R.C., Mandel, H., Wali, S., Karet, F.E., Knisely, A.S., Houwen, R.H., Kelly, D.A., Maher, E.R. Nat. Genet. (2004)
- Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis. Lo, B., Li, L., Gissen, P., Christensen, H., McKiernan, P.J., Ye, C., Abdelhaleem, M., Hayes, J.A., Williams, M.D., Chitayat, D., Kahr, W.H. Blood (2005)
- Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b. Carim, L., Sumoy, L., Andreu, N., Estivill, X., Escarceller, M. Cytogenet. Cell Genet. (2000)
- Molecular basis of intrahepatic cholestasis. Carlton, V.E., Pawlikowska, L., Bull, L.N. Ann. Med. (2004)
- Increased nuchal translucency in arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome and discovery of a Portuguese specific mutation in the VPS33B gene. Sanseverino, M.T., de Souza, C.F., Gissen, P., Sordi, A.O., Magalhães, J.A., Schüler-Faccini, L. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. (2006)