VPS33B Antibody

1. ARKID syndrome is caused by VPS33B mutation. PMID: 28017832
2. Vesicular trafficking complexes, containing VPS33B, are a novel class of modifiers of integrin function. PMID: 26399659
3. Novel splice site mutations in the VPS33B gene were identified in arthrogryposis, renal dysfunction, and cholestasis syndrome in Koreans. PMID: 24917129
4. Abnormal protein trafficking and impairment in multivesicular bodies maturation in Megakaryocytes underlie the alpha-granule deficiency in Vps33b(fl/fl)-ER(T2) mouse and ARC patients. PMID: 25947942
5. Case Report: neonate with ARC syndrome and high GGT cholestasis caused by VPS33B heterozygous mutations. PMID: 24782640
6. Case Report: novel mutations in VPS33B in Chinese patient with arthrogryposis, renal dysfunction and cholestasis syndrome. PMID: 24415890
7. Our data suggest that the ARC syndrome may result through impaired VIPAS39/SPE-39 and Vps33b-dependent endosomal maturation or fusion. PMID: 23918659
8. Evidence of genotype-phenotype correlation in ARC syndrome the VPS33B c.1225+5G>C mutation predicts a mild phenotype. PMID: 22753090
9. VPS16B, similar to its binding partner VPS33B, is essential for megakaryocyte and platelet alpha-granule biogenesis. PMID: 23002115
10. SPE-39 due to tyrosine phosphorylation and ubiquitination on the function of Vps33B in the EGF-stimulated cells PMID: 22677173
11. encodes a homolog of the class C yeast vacuolar protein sorting gene, that contains a Sec1-like domain important in the regulation of vesicle-to-target SNARE complex formation and subsequent membrane fusion PMID: 15052268
12. A and B classes reflect the evolution of organelle/tissue-specific functions PMID: 15790593
13. VPS33B is involved in intracellular vesicle trafficking PMID: 16123220
14. The present observations indicate that VPS33B deficiency results in abnormal secretion of lamellar granules, which underlies ichthyosis in ARC syndrome. PMID: 18347289
15. Genetic deletion of ptpA attenuates Mycobacterium tuberculosis growth in human macrophages and identify VPS33B, a regulator of membrane fusion, as a PtpA substrate. PMID: 18474358
16. We assessed the clinical characteristics and investigated the VPS33B mutations in Korean patients with ARC (arthrogryposis, renal dysfunction, and cholestasis) syndrome. PMID: 19274792

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HGNC: 12712

OMIM: 208085

KEGG: hsa:26276

STRING: 9606.ENSP00000327650

UniGene: Hs.745007