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

external link
2.

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

external link
3.

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

external link
4.

NCBI article

NCBI 63894 external link
5.

OMIM.ORG article

Omim 613401 external link
6.

Orphanet article

Orphanet ID 227089 external link
7.

Wikipedia article

Wikipedia EN (VIPAS39) external link
Update: Aug. 14, 2020
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