Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

The VIPAS39 gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene cause autosomal recessive ARCS2, 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 2
VIPAS39

References:

1.

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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2.

Heilig R et al. (2003) The DNA sequence and analysis of human chromosome 14.

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3.

Zhu GD et al. (2009) SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.

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Update: Sept. 26, 2018