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VIPAR encodes a protein involved in the sorting of lysosomal proteins. Additionally we are shipping VIPAR Proteins (6) and and many more products for this protein.
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A likely causal mutation was identified in the majority (61%), spanning many genes including ones that have only rarely been reported to cause cholestatic liver disease, e.g. TJP2 (show TJP2 Antibodies) and VIPAS39
Genetic studies showed a homozygous mutation in the VIPAS39 gene. Making the definite diagnosis of the syndrome is important, while increased risk of mutation in other siblings highlights the importance of prenatal diagnosis.
Our data suggest that the ARC (show NOL3 Antibodies) syndrome may result through impaired VIPAS39/SPE-39 and Vps33b (show VPS33B Antibodies)-dependent endosomal maturation or fusion.
VPS16B, similar to its binding partner VPS33B (show VPS33B Antibodies), is essential for megakaryocyte and platelet alpha-granule biogenesis.
SPE-39 has an inhibitory effect due to tyrosine phosphorylation and ubiquitination on the function of Vps33B (show VPS33B Antibodies) in the EGF (show EGF Antibodies)-stimulated cells
SPE-39 homologues are present in RAB5 (show RAB5A Antibodies)-, RAB7 (show RAB7B Antibodies)-, and RAB11 (show RAB11A Antibodies)-positive endosomes where they play a conserved role in lysosomal delivery and probably function via their interaction with the core HOPS (show ALPL Antibodies) complex.
VPS33B (show VPS33B Antibodies) and VIPAR are essential for epidermal lamellar body biogenesis and function
The VPS33B (show VPS33B Antibodies)-VIPAR complex thus has diverse functions in the pathways regulating apical-basolateral polarity in the liver and kidney.
This gene encodes a protein involved in the sorting of lysosomal proteins. Mutations in this gene are associated with ARCS2 (arthrogryposis, renal dysfunction, and cholestasis-2). Alternative splicing results in multiple transcript variants.
VPS33B interacting protein, apical-basolateral polarity regulator
, vacuolar protein sorting 16 homolog A
, SPE-39 protein
, VPS33B-interacting protein in apical-basolateral polarity regulator
, VPS33B-interacting protein in polarity and apical restriction
, VPS33B-interacting protein involved in polarity and apical protein restriction
, protein spe-39 homolog
, spermatogenesis-defective protein 39 homolog