Ask about this productRelated genes to: VPS33B antibody
- Gene:
- VPS33B NIH gene
- Name:
- VPS33B late endosome and lysosome associated
- Previous symbol:
- -
- Synonyms:
- FLJ14848
- Chromosome:
- 15q26.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-11-19
- Date modifiied:
- 2019-04-23
Related products to: VPS33B antibody
Related articles to: VPS33B antibody
- Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome is a rare, early-lethal disorder caused by gene mutations. We report a female patient in her early twenties with genetically confirmed ARC syndrome harboring the compound heterozygous mutations c.242delT and c.1726T>C. The patient's liver dysfunction progressed to decompensation and subsequently she underwent a liver transplant. Histological examination of the explanted liver revealed well-established cirrhosis with focal interlobular bile duct loss, marked cholestasis, feathery degeneration, and copper deposits. This is the first report of liver explant histopathology from an adult ARC syndrome patient. These findings broaden the genotypic and histological findings of ARC syndrome. - Source: PubMed
Publication date: 2026/04/01
Moustafa MohamedPeng LanChi Zhikai - VPS33B is a ubiquitously expressed regulator of vesicular membrane fusion and protein sorting involved in a broad range of cellular functions from organelle biogenesis to the establishment of apicobasal polarity. Loss-of-function mutations in VPS33B cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder with multi-organ involvement, including a characteristic proximal tubular dysfunction in the kidney. While VPS33B has been studied in several cell types, its role in proximal tubular epithelial cells remains poorly understood. To investigate its function, a proximal tubular cell line (RPTEC-TERT1) was CRISPR-edited to generate VPS33B knockout (KO) cells. These cells were characterised using brightfield imaging, immunostaining, RNA sequencing, and cell detachment assays, revealing a distinct 'peeling' phenotype and altered adhesion properties. Transcriptional profiling indicated changes in genes linked to cell adhesion. Together, these findings offer preliminary evidence that loss of VPS33B impairs cell-matrix attachment and reveal the first insights into the role of VPS33B within proximal tubular epithelial cells. - Source: PubMed
Publication date: 2026/02/13
Caluianu MariaOwen Kimberley A - High-grade serous ovarian cancer (HGSOC) is the second most lethal gynecologic malignancy, often diagnosed at a late stage due to the lack of reliable early detection strategies. Currently, there are no specific diagnostic or prognostic biomarkers for ovarian cancer (OC). Thus, there is a great need for novel validated biomarkers for OC diagnosis. - Source: PubMed
Publication date: 2026/01/27
Vaicekauskaitė IevaJuodakis JuliusKazlauskaitė PaulinaČiurlienė RūtaSmailytė GiedrėLazutka Juozas RimantasSabaliauskaitė Rasa - Collagen is essential for maintaining skin structure and function, and the circadian rhythm is known to regulate a wide range of physiological processes. - Source: PubMed
Wang ChengSong TianlinZhang YurongLi NihongXie LingXie MinJiang XingwuLü GuangleiMeng YunWang ChaochaoYue LijunYang WeiLi YangWu YelinChen Liang - Mild-to-moderate bleeding disorders are underdiagnosed, with many individuals classified as having no clear cause for their bleeding. Accurate diagnosis remains challenging and requires comprehensive clinical assessment, detailed laboratory testing, and advanced genetic testing. - Source: PubMed
Publication date: 2025/10/23
Díaz-Ajenjo LorenaMarín-Quílez AnaLama-Villanueva AnaGarcía-Jaén PabloRey-Bua BeatrizHernández-Rivas Jesús MaríaMorgan Neil VGonzález-Porras José RamónBenito RocíoRivera JoséBastida José María