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 Vacuolar Protein Sorting 13 homolog B 

Vacuolar Protein Sorting 13 homolog B or VPS13B is a protein that is believed to be involved in post Golgi apparatus sortation and transferring.

The VPS13B gene is also know as:


 * CHS1
 * COH1
 * Cohen syndrome 1
 * DKFZp313I0811
 * KIAA0532
 * vacuolar protein sorting 13 homolog B (yeast)
 * vacuolar protein sorting 13B
 * VP13B_HUMAN

Proteins produced from the VPS13B gene area part of the Golgi apparatus. They are also responsible for sorting and transporting of proteins inside of the cell. The VPS13Bprotein is important because it plays an huge role in the function of normal growth, the development of neurons, and the development of adipocytes. This protein may also play a role in the development of the function for eyes, the hematological system, the central nervous system, and in the storage and distribution of fats in the body. The VPS13B is found at locus 8q22.2. This means that the VPS13Bgene is located on chromosome 8 at position 22.2 on the long q arm at 8q22.2. The VPS13B protein is composed of 4,022 amino acids and might have a total of ten trans-membrane domains and a complex pattern of functional motifs.

 Mutations in Vacuolar Protein Sorting 13 homolog B 

So far over 150 types of different mutations in the VPS13B gene have been found in individuals diagnosed with Cohen syndrome. There is little to no evidence that a nonfunctional VPS13B protein causes Cohen syndrome, but from research and test it looks as if it is. A deletion in the VPS13B gene causes a premature stop signal in the instructions for making the VPS13B protein, causing the protein to become abnormally short and nonfunctional. When this happens, the nonfunctional protein causes the Golgi apparatus not to work properly and stops normal glycosylation.