VPS13B

Last update 08 May 2025

Basic Info

Synonyms

CHS1, COH1, Cohen syndrome protein 1

+ [5]

Introduction

Mediates the transfer of lipids between membranes at organelle contact sites (By similarity). Binds phosphatidylinositol 3-phosphate (By similarity). Functions as a tethering factor in the slow endocytic recycling pathway, to assist traffic between early and recycling endosomes (PubMed:24334764, PubMed:30962439, PubMed:32375900). Involved in the transport of proacrosomal vesicles to the nuclear dense lamina (NDL) during spermatid development (By similarity). Plays a role in the assembly of the Golgi apparatus, possibly by mediating trafficking to the Golgi membrane (PubMed:21865173). Plays a role in the development of the nervous system, and may be required for neuron projection development (PubMed:25492866, PubMed:32560273). May also play a role during adipose tissue development (PubMed:26358774). Required for maintenance of the ocular lens (By similarity).

100 Clinical Results associated with VPS13B

100 Translational Medicine associated with VPS13B

0 Patents (Medical) associated with VPS13B

174

Literatures (Medical) associated with VPS13B

01 May 2025·Journal of Hazardous Materials

2-Ethylhexanol induces autism-like neurobehavior and neurodevelopmental disorders in zebrafish

Article

Author: Kim, Woo-Keun ; Eghan, Kojo ; Lee, Sangwoo ; Yoo, Donggon

Autism Spectrum Disorder (ASD) is a complex neurodevelopmental disorder characterized by impaired social interaction, communication deficits, and repetitive behaviors. The rising prevalence of ASD necessitates intensified research. 2-Ethylhexanol, is a synthetically produced branched-chain alcohol used in plasticizer synthesis. However, its role in ASD-like symptoms and potential neurotoxic effects remains largely unexplored. This study employed a multimodal neurotoxicity testing approach to evaluate the adverse effects of 2-ethylhexanol on zebrafish neurobehavior and neurodevelopment. Wild-type and transgenic zebrafish lines (tg(elavl3: eGFP) and tg(mbp:mGFP)) were exposed to 2-ethylhexanol for 120 hours post-fertilization (hpf). Significant disruptions were observed in early motor activities, such as tail coiling and touch-evoked responses, which aligned with later locomotor impairments, including reduced distance traveled and increased turn angle. These behavioral changes were accompanied by decreased levels of acetylcholinesterase (AChE) and dopamine (DA). Deficits in social behavior (e.g., reduced body contact) were identified, potentially linked to altered transcription of autism-associated genes (adsl, eif4a1, mbd5, vps13b, and tsc1b). Abnormalities in neurogenesis, including reduced brain and spinal cord size, and demyelination of oligodendrocytes and Schwann cells, were evident. Additionally, transcriptional changes related to neurodevelopment (gap43, manf, sox2) and neurotransmitter signaling (drd1, mao, htr1bd) were observed. Our findings provide compelling evidence that 2-ethylhexanol exposure leads to neurodevelopmental impairments and behavioral alterations reminiscent of ASD. This research highlights the importance of further investigations to assess the potential risks of 2-ethylhexanol exposure and develop prevention and mitigation strategies.

01 Apr 2025·Clinical Rheumatology

Whole exome sequencing for identifying rare genetic variants related to idiopathic granulomatous mastitis

Article

Author: Ozer, Leyla ; Koksal, Hande

AbstractBackgroundsTo reveal rare genetic factors that cause susceptibility to idiopathic granulomatous mastitis (IGM).MethodsWhole exome sequencing (WES) was performed in 30 patients with histopathologically diagnosed idiopathic granulomatous mastitis. WES analysis mainly focused on 317 genes linked to autoimmunity, autoinflammation, and immune dysregulation.ResultsA total of 141 variants were detected in 100 genes. The 40% (12/30) of patients had pathogenic or likely pathogenic variants. The pathogenic/likely pathogenic variants were 10.6% of all variants, and the rest of the variants (89.4%) were classified as VUS. Most of the variants were heterozygous (97.2%) only 4 variants (2.8%) were homozygous. Pathogenic/likely pathogenic variants were detected in FCGR1A, MPO, F5, IL36RN, CLUH, C9, NAXD, PROC, THRB, IFI30, COQ2, RNASEH2B, and SLC29A3 genes. The highest number of variants were detected in UNC13D, VPS13B, EPHB4, NLRP12, TCIRG1, TOM1, IRF9, and PIK3CG.ConclusionUp to date, our study is the first whole exome sequencing study of IGM patients which aims to find out the rare variants related to etiopathogenesis of the disease. We identified 141 single nucleotide variants of 100 genes, and most of these variants were found in innate immunity-related genes. The current study provides clues for identifying the etiologic factors and designing further functional studies in this rare disease with unknown etiopathogenesis. Key Points•Autoimmunity/autoinflammation-related genetic factors are blamed for etiopathogenesis of idiopathic granulomatous mastitis (IGM).•Mutation in genes related to innate immunity, especially in macrophage functions and phagocytosis, may lead to IGM susceptibility.•Potential candidate genes for genetic susceptibility to IGM may shed light for new treatment options.

12 Dec 2024·Microbiology Resource Announcements

Streptococcus agalactiae strain COH1 transcriptome in association with stem cell-derived brain-like endothelial cells

Article

Author: Sauerwein, Till ; Schubert-Unkmeir, Alexandra ; Lam, Daryl W. ; Kim, Brandon J. ; Westermann, Alexander J. ; Foerstner, Konrad U. ; Vollmuth, Nadine

ABSTRACTStreptococcus agalactiae (Group B Streptococcus ) strain COH1 is a representative strain of serotype III, multi-locus sequence type 17, which is disproportionately associated with neonatal meningitis. Here we report the transcriptome of COH1 when interacting with human brain endothelial cells compared with COH1 alone.

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VPS13B

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