VPS13B : vacuolar protein sorting 13 homolog B


Description

The VPS13B (vacuolar protein sorting 13 homolog B) is a protein-coding gene located on chromosome 8.

The VPS13B gene (also known as COH1) plays a role in various cellular processes. The protein produced by this gene is located in the Golgi apparatus, where it modifies newly synthesized proteins. VPS13B is involved in glycosylation, the attachment of sugar molecules to proteins, and assists in protein sorting and transport within the cell. VPS13B appears to be crucial for the normal development of nerve cells (neurons) and may be involved in the development of fat-storing cells (adipocytes) and the regulation of fat storage and distribution in the body.

VPS13B, also known as Cohen syndrome protein 1, mediates the transfer of lipids between membranes at organelle contact sites. It binds phosphatidylinositol 3-phosphate and acts as a tethering factor in the slow endocytic recycling pathway, facilitating traffic between early and recycling endosomes. VPS13B is involved in transporting proacrosomal vesicles to the nuclear dense lamina during spermatid development. It plays a role in Golgi apparatus assembly, potentially by mediating trafficking to the Golgi membrane. VPS13B contributes to nervous system development, possibly being essential for neuron projection development. It may also participate in adipose tissue development. VPS13B is required for maintaining the ocular lens. VPS13B interacts with STX6, STX12, RAB6A isoforms 1 and 2 (GTP-bound), and RAB6B (GTP-bound).

VPS13B is also known as BLTP5B, CHS1, COH1.

Associated Diseases


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