VPS33B

Last update 08 May 2025

Basic Info

Synonyms

FLJ14848, hVPS33B, Vacuolar protein sorting-associated protein 33B

+ [2]

Introduction

May play a role in vesicle-mediated protein trafficking to lysosomal compartments and in membrane docking/fusion reactions of late endosomes/lysosomes. Required for proper trafficking and targeting of the collagen-modifying enzyme lysyl hydroxylase 3 (LH3) to intracellular collagen (PubMed:28017832). Mediates phagolysosomal fusion in macrophages (PubMed:18474358). Proposed to be involved in endosomal maturation implicating VIPAS39. In epithelial cells, the VPS33B:VIPAS39 complex may play a role in the apical recycling pathway and in the maintenance of the apical-basolateral polarity (PubMed:20190753). Seems to be involved in the sorting of specific cargos from the trans-Golgi network to alpha-granule-destined multivesicular bodies (MVBs) promoting MVBs maturation in megakaryocytes (By similarity).

100 Clinical Results associated with VPS33B

100 Translational Medicine associated with VPS33B

0 Patents (Medical) associated with VPS33B

115

Literatures (Medical) associated with VPS33B

01 Feb 2025·Journal of Thrombosis and Haemostasis

Molecular basis of platelet granule defects

Review

Author: Kahr, Walter H A ; Yao, Helen H Y

Platelets are small, discoid, anucleate blood cells that play key roles in clotting and other functions involved in health and disease. Platelets are derived from bone marrow-resident megakaryocytes, which undergo a complex developmental process where they increase dramatically in size and produce an abundance of organelles destined for platelets. These organelles include mitochondria, lysosomes, peroxisomes, and 2 unique types of secretory organelles: α- and dense (δ-) granules. δ-Granules contain small molecules, including adenosine triphosphate, adenosine diphosphate, serotonin, and ions, such as calcium and zinc (Ca²⁺ and Zn²⁺). α-Granules contain a variety of cargo proteins, which, when secreted by activated platelets, are involved in processes such as hemostasis (eg, fibrinogen and von Willebrand factor), angiogenesis, inflammation, and wound healing. Investigations of patients with inherited conditions resulting in decreased/abnormal platelet secretory granules have led to the identification of proteins, protein complexes, and cellular processes involved in their production by megakaryocytes. Notably, studies of ARPC1B deficiency, Hermansky-Pudlak, and Chediak-Higashi syndromes have linked several genes/proteins to δ-granule biogenesis. Studies of multisystemic arthrogryposis, renal dysfunction, and cholestasis syndrome revealed the requirement of 2 proteins, VPS33B and VPS16B, in α-granule formation. Identification of the genetic cause of gray platelet syndrome established that NBEAL2 is an additional protein needed for α-granule cargo retention. These discoveries enabled studies using animal models, cell culture, and molecular analysis to gain insights into the roles of proteins and cellular processes involved in platelet secretory granule production, which are discussed in this review.

14 Jun 2024·Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi

[Rare VPS33B gene mutation combined with GP1BA mutation causes severe decrease in plasma VWF levels: a case report and literature review].

Review

Author: Ma, Z N ; Jiang, M ; Bai, X ; Ma, S Q ; Yu, Z J ; Cao, L J ; Ding, Z X

A 28-year-old woman was found to have coagulation factor Ⅷ activity (FⅧ∶C) <1% and von Willebrand factor antigen (VWF∶Ag) <1% during routine prenatal examinations. No pathogenic variation was found in the exon region of the VWF gene using next-generation sequencing. The clinical presentation of this patient does not match the clinical characteristics of type Ⅲ hemophilia [von Willebrand disease (VWD) ]; therefore, third-generation sequencing technology was used to perform whole-genome sequencing on the patient and her family members. Multiple members of the patient's paternal family carried a heterozygous variant of VPS33B, c.869G>C. The family members carrying this variant all had varying degrees of reduced VWF levels (39% -56% ). Moreover, the proband was detected with the heterozygous variant c.1474dupA in GP1BA. The ACMG and Clinvar databases determined that this variation was associated with platelet-type pseudo VWD. The decrease in VWF levels caused by heterozygous variations in VPS33B in families is the first international report, and no previous studies have reported cases of severe decrease in plasma VWF levels caused by double heterozygous variations in VPS33B and GP1BA.

01 Jun 2024·Journal of Cellular and Molecular Medicine

Whole‐exome sequencing for genetic diagnosis of idiopathic liver injury in children

Article

Author: Özçay, Figen ; Aydemir, Yusuf ; Aytekin, Caner ; Warasnhe, Khaled ; Yazıcı, Yılmaz Yücehan ; Barış, Zeren ; Lülecioğlu, Aysima Atılgan ; Baran, Alperen ; Belkaya, Serkan ; Beyaz, Şengül

AbstractGenome‐wide approaches, such as whole‐exome sequencing (WES), are widely used to decipher the genetic mechanisms underlying inter‐individual variability in disease susceptibility. We aimed to dissect inborn monogenic determinants of idiopathic liver injury in otherwise healthy children. We thus performed WES for 20 patients presented with paediatric‐onset recurrent elevated transaminases (rELT) or acute liver failure (ALF) of unknown aetiology. A stringent variant screening was undertaken on a manually‐curated panel of 380 genes predisposing to inherited human diseases with hepatobiliary involvement in the OMIM database. We identified rare nonsynonymous variants in nine genes in six patients (five rELT and one ALF). We next performed a case‐level evaluation to assess the causal concordance between the gene mutated and clinical symptoms of the affected patient. A genetic diagnosis was confirmed in four rELT patients (40%), among whom two carried novel mutations in ACOX2 or PYGL, and two had previously‐reported morbid variants in ABCB4 or PHKA2. We also detected rare variants with uncertain clinical significance in CDAN1, JAG1, PCK2, SLC27A5 or VPS33B in rELT or ALF patients. In conclusion, implementation of WES improves diagnostic yield and enables precision management in paediatric cases of liver injury with unknown aetiology, in particular recurrent hypertransaminasemia.

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VPS33B

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