VPS33B Gene

The VPS33B gene (VPS33B stands for Vacuolar Protein Sorting-Associated Protein 33B) is a protein-coding gene , located on chromosome 15q26.1.

Vesicle-mediated protein sorting plays an important role in the partitioning of intracellular molecules to different organelles. Genetic studies in yeast have identified more than 40 genes involved in vacuolar protein sorting (VPS). Seems to be involved in sorting specific cargoes from the trans-Golgi network into multivesicular bodies (MVBs) destined for alpha granules and promotes maturation of MVBs in megakaryocytes.

Diseases associated with VPS33B include Arthrogryposis, Renal Dysfunction, And Cholestasis 1 and Cholestasis.

1. Chai M et al (2018) Identification of genes and signaling pathways associated with arthrogryposis-renal dysfunction-cholestasis syndrome using weighted correlation network analysis. Int J Mol Med 42:2238-2246.
2. Huang DG et al (2017) Clinical features and VPS33B mutations in a family affected by arthrogryposis, renal dysfunction, and cholestasis syndrome. Zhongguo Dang Dai Er Ke Za Zhi 19:1077-1082.
3. Ilhan O et al. (2016) Arthrogryposis-renal tubular dysfunction-cholestasis syndrome: a cause of neonatal cholestasis. Case report. Arch Argent Pediatr 114:e9-12.
4. Moon AT et al (2017) A Novel VPS33B Mutation in a Patient with Arthrogryposis-Renal Dysfunction-Cholestasis Syndrome. Pediatr Dermatol 34:e171-e173.