VPS13A : vacuolar protein sorting 13 homolog A


Description

The VPS13A (vacuolar protein sorting 13 homolog A) is a protein-coding gene located on chromosome 9.

The VPS13A gene provides instructions for producing a protein called chorein. Chorein is found in various tissues throughout the body. The function of this protein is unknown. Some researchers believe that chorein plays a role in the movement of proteins within cells.

VPS13A mediates the transfer of lipids between membranes at organelle contact sites. It binds phospholipids and is required for the formation or stabilization of ER-mitochondria contact sites, enabling lipid transfer between the ER and mitochondria. VPS13A negatively regulates lipid droplet size and motility. It is also essential for efficient lysosomal protein degradation.

VPS13A is also known as BLTP5A, CHAC, CHOREIN.

Associated Diseases


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