Vacuolar protein sorting 13 homolog B (VPS13B)

Vacuolar protein sorting 13 homolog B (**VPS13B**) is a large (~4,000 amino acid, ~450 kDa) peripheral membrane protein belonging to the bridge-like lipid transfer protein (BLTP) family. The canonical VPS13B protein is encoded by the *VPS13B* gene on chromosome 8q22 and localizes primarily to the Golgi apparatus in human cells, where it plays a critical role in maintaining Golgi structure and facilitating lipid transfer between intracellular membrane contact sites. It is required for proper glycosylation and intracellular transport of proteins, influences growth and development of neurons and adipocytes, and is widely expressed in multiple human tissues[1][2][3][4][5][6][7]. Biallelic loss-of-function mutations in *VPS13B* lead to **Cohen syndrome**, a rare autosomal recessive disorder characterized by intellectual disability, acquired microcephaly, distinctive facial features, eye problems (retinal degeneration and myopia), neutropenia, and truncal obesity. Mutations disrupt Golgi organization and glycosylation, resulting in broad defects in neurodevelopment and cell function[2][3][5][7]. VPS13B interacts with proteins such as RAB6, STX6, and STX13, involved in vesicular trafficking within the cell[3][7]. Despite its significance in disease development when mutated, VPS13B is not currently considered a therapeutic drug target, nor do drugs exist that directly modulate its function.

Other names

VPS13BCohen syndrome protein 1COH1CHS1KIAA0532BLTP5BIntermembrane lipid transfer protein VPS13BBridge-like lipid transfer protein family member 5BVacuolar protein sorting-associated protein 13B

Not applicable; no drugs currently target VPS13B.