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

Gene: LOC105370970

Alternate names for this Gene:

Gene Summary:

Gene is located in Chromosome:

Location in Chromosome :

Description of this Gene:

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rs769333468 in VPS33B;LOC105370970 gene and Arthrogryposis, renal dysfunction, and cholestasis 1 PMID 19274792 2009 Clinical characteristics and VPS33B mutations in patients with ARC syndrome.

PMID 24917129 2015 Identification of novel mutations in the VPS33B gene involved in arthrogryposis, renal dysfunction, and cholestasis syndrome.

PMID 21851503 2011 Aberrant splicing by a mutation, c.403+2T>A, in Korean patients with arthrogryposis-renal-dysfunction-cholestasis syndrome.

PMID 18853461 2009 Molecular investigations to improve diagnostic accuracy in patients with ARC syndrome.

PMID 24782640 2014 ARC syndrome with high GGT cholestasis caused by VPS33B mutations.