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VIPAR encodes a protein involved in the sorting of lysosomal proteins. Additionally we are shipping VIPAR Antibodies (18) and many more products for this protein.
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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 Proteins) syndrome may result through impaired VIPAS39/SPE-39 and Vps33b (show VPS33B Proteins)-dependent endosomal maturation or fusion.
VPS16B, similar to its binding partner VPS33B (show VPS33B Proteins), 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 Proteins) in the EGF (show EGF Proteins)-stimulated cells
SPE-39 homologues are present in RAB5 (show RAB5A Proteins)-, RAB7 (show RAB7B Proteins)-, and RAB11 (show RAB11A Proteins)-positive endosomes where they play a conserved role in lysosomal delivery and probably function via their interaction with the core HOPS (show ALPL Proteins) complex.
The VPS33B (show VPS33B Proteins)-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