VPS53

VPS53 is a protein that in humans is encoded by the VPS53 gene. It is a component of the GARP (Golgi-associated retrograde protein) complex, which is involved in the maintenance of the Golgi apparatus and endosome to Golgi trafficking.

Function

The VPS53 protein is a part of the GARP complex that is responsible for the maintenance of the cis-Golgi structure and function. It is also involved in the retrograde transport of proteins from endosomes to the Golgi apparatus. This protein is essential for the cell's survival and the disruption of this gene has been associated with several human diseases.

Clinical significance

Mutations in the VPS53 gene have been associated with progressive cerebello-cerebral atrophy type 2 (PCCA2), a rare autosomal recessive disorder characterized by infantile-onset epilepsy, mental retardation, microcephaly, and cerebellar atrophy.

Interactions

VPS53 has been shown to interact with VPS52 and VPS54, other components of the GARP complex.

See also

• VPS52
• VPS54
• GARP Complex
• Golgi apparatus
• Endosome

References

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