Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Vacuolar protein sorting 33 homolog B (yeast)

The VPS33B gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene cause autosomal recessive ARCS1, a syndrome characterized by arthrogryposis, renal dysfunction, and cholestasis.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Arthrogryposis, renal dysfunction, and cholestasis 1
VPS33B

References:

1.

Carim L et al. (2000) Cloning, mapping and expression analysis of VPS33B, the human orthologue of rat Vps33b.

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2.

Huizing M et al. (2001) Molecular cloning and characterization of human VPS18, VPS 11, VPS16, and VPS33.

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3.

Eastham KM et al. (2001) ARC syndrome: an expanding range of phenotypes.

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4.

Gissen P et. al. (2004) Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.

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5.

Gissen P et. al. (2006) Clinical and molecular genetic features of ARC syndrome.

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6.

Taha D et. al. (2007) A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

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7.

Cullinane AR et. al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.

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8.

Horslen SP et. al. (1994) Liver histology in the arthrogryposis multiplex congenita, renal dysfunction, and cholestasis (ARC) syndrome: report of three new cases and review.

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Update: Sept. 26, 2018