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.
Cullinane AR et. al. (2010) Mutations in VIPAR cause an arthrogryposis, renal dysfunction and cholestasis syndrome phenotype with defects in epithelial polarization.
Heilig R et al. (2003) The DNA sequence and analysis of human chromosome 14.
Zhu GD et al. (2009) SPE-39 family proteins interact with the HOPS complex and function in lysosomal delivery.
Update: Sept. 26, 2018