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VIPAR encodes a protein involved in the sorting of lysosomal proteins. Zusätzlich bieten wir Ihnen VIPAR Proteine (6) und und viele weitere Produktgruppen zu diesem Protein an.
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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 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 syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion.
VPS16B, similar to its binding partner VPS33B, 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 in the EGF-stimulated cells
SPE-39 homologues are present in RAB5-, RAB7-, and RAB11-positive endosomes where they play a conserved role in lysosomal delivery and probably function via their interaction with the core HOPS complex.
VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function
The VPS33B-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