Intermembrane lipid transfer protein VPS13B, also known as vacuolar protein sorting-associated 13B, and Cohen syndrome protein 1 is a protein that in humans is encoded by the VPS13B gene. It is a giant protein associated with the Golgi apparatus that is believed to be involved in post-Golgi apparatus sorting and trafficking. Mutations in the human VPS13B gene cause Cohen syndrome.
VPS13B gene is also referred to as CHS1, COH1, KIAA0532, and DKFZp313I0811.
The cytogenetic location of the human VPS13B gene is 8q22, which is the long arm of chromosome eight at position 22.2. Various splice variants encoding isoforms have been identified. The canonical form of the expressed protein encoded by the human VPS13B gene has 3997 amino acids.
