VPS33B
VPS33B (Vacuolar Protein Sorting 33 Homolog B) is a protein that in humans is encoded by the VPS33B gene. It is a member of the Sec1 domain family, and shows sequence similarity to the yeast Vps33 protein. The yeast Vps33 protein is a part of the multiprotein complex termed class C Vps complex involved in vacuolar protein sorting. The class C Vps complex functions at the level of the Golgi apparatus and the late endosome, and is essential for the normal function of the yeast vacuole. Human VPS33B is found to interact with a protein named VPS16B, and they together may function in vesicle trafficking.
Function[edit | edit source]
VPS33B is involved in the process of protein sorting in the Golgi apparatus and endosome. It is a part of the class C Vps complex which is essential for the normal function of the vacuole. VPS33B interacts with VPS16B, and together they may function in vesicle trafficking.
Clinical significance[edit | edit source]
Mutations in the VPS33B gene are associated with Arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome. ARC syndrome is a rare autosomal recessive multisystem disorder, characterized by arthrogryposis, renal tubular acidosis, and cholestasis with bile duct paucity.
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References[edit | edit source]
External links[edit | edit source]
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