Intermembrane lipid transfer protein VPS13B

Definition:

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. 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. Plays a role in the development of the nervous system, and may be required for neuron projection development. May also play a role during adipose tissue development. Required for maintenance of the ocular lens (By similarity).

References:

[1]. Laurence Duplomb, et al. Cohen syndrome is associated with major glycosylation defects. Hum Mol Genet. 2014 May 1;23(9):2391-9. [Content Brief]

[2]. Seiichi Koike, et al. SNAREs define targeting specificity of trafficking vesicles by combinatorial interaction with tethering factors. Nat Commun. 2019 Apr 8;10(1):1608. [Content Brief]

[3]. You-Kyung Lee, et al. Autophagy pathway upregulation in a human iPSC-derived neuronal model of Cohen syndrome with VPS13B missense mutations. Mol Brain. 2020 May 6;13(1):69. [Content Brief]

[4]. Wenke Seifert, et al. Cohen syndrome-associated protein, COH1, is a novel, giant Golgi matrix protein required for Golgi integrity. J Biol Chem. 2011 Oct 28;286(43):37665-75. [Content Brief]

[5]. Floriane Limoge, et al. Insulin response dysregulation explains abnormal fat storage and increased risk of diabetes mellitus type 2 in Cohen Syndrome. Hum Mol Genet. 2015 Dec 1;24(23):6603-13. [Content Brief]

[6]. Wenke Seifert, et al. Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. J Biol Chem. 2015 Feb 6;290(6):3349-58. [Content Brief]

[7]. You-Kyung Lee, et al. Cohen Syndrome Patient iPSC-Derived Neurospheres and Forebrain-Like Glutamatergic Neurons Reveal Reduced Proliferation of Neural Progenitor Cells and Altered Expression of Synapse Genes. J Clin Med. 2020 Jun 16;9(6):1886. [Content Brief]

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