VIPAS39 Antibody, HRP conjugated

1. 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 PMID: 28039895
2. 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. PMID: 26808426
3. Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion. PMID: 23918659
4. VPS16B, similar to its binding partner VPS33B, is essential for megakaryocyte and platelet alpha-granule biogenesis. PMID: 23002115
5. SPE-39 has an inhibitory effect due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells PMID: 22677173
6. 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. PMID: 19109425

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HGNC: 20347

OMIM: 613401

KEGG: hsa:63894

STRING: 9606.ENSP00000339122

UniGene: Hs.16157