ZFYVE27

ZFYVE27 is a human gene that encodes for the protein Protrudin. This protein plays a significant role in the neuronal system, particularly in the endoplasmic reticulum and Golgi apparatus, where it aids in the trafficking of vesicles. Mutations in the ZFYVE27 gene have been associated with a rare form of hereditary spastic paraplegia (HSP), specifically SPG33.

Function

The ZFYVE27 gene encodes for the protein Protrudin, which is primarily located in the endoplasmic reticulum (ER) and Golgi apparatus of cells. Protrudin has been found to play a crucial role in the trafficking of vesicles from the ER to the plasma membrane. It does this by interacting with other proteins such as Rab11 and VAMP2, which are involved in vesicle transport.

Clinical Significance

Mutations in the ZFYVE27 gene have been linked to a rare form of hereditary spastic paraplegia (HSP), known as SPG33. HSP is a group of inherited disorders that are characterized by progressive weakness and stiffness of the legs. SPG33 is an autosomal recessive form of HSP, meaning that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the disorder.

Research

Research into the ZFYVE27 gene and its associated protein, Protrudin, is ongoing. Current studies are focused on understanding the exact mechanisms by which Protrudin facilitates vesicle trafficking, as well as the specific ways in which mutations in the ZFYVE27 gene lead to the development of SPG33.