Gene: VPS33B-DT
Alternate names for this Gene: -
Gene Summary:
Gene is located in Chromosome: 15
Location in Chromosome : 15q26.1
Description of this Gene: VPS33B divergent transcript
Type of Gene: ncRNA
Gene: VPS33B
Alternate names for this Gene: -
Gene Summary: Vesicle mediated protein sorting plays an important role in segregation of intracellular molecules into distinct organelles. Genetic studies in yeast have identified more than 40 vacuolar protein sorting (VPS) genes involved in vesicle transport to vacuoles. This gene is a member of the Sec-1 domain family, and encodes the human ortholog of rat Vps33b which is homologous to the yeast class C Vps33 protein. The mammalian class C vacuolar protein sorting proteins are predominantly associated with late endosomes/lysosomes, and like their yeast counterparts, may mediate vesicle trafficking steps in the endosome/lysosome pathway. Mutations in this gene are associated with arthrogryposis-renal dysfunction-cholestasis syndrome. Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 15
Location in Chromosome : 15q26.1
Description of this Gene: VPS33B late endosome and lysosome associated
Type of Gene: protein-coding
rs121434385 in
VPS33B-DT;VPS33B gene and
Arthrogryposis, renal dysfunction, and cholestasis 1
PMID 23918659 2013 Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.
PMID 22753090 2012 Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndrome.
PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.
PMID 15052268 2004 Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
PMID 20190753 2010 Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.