VPS53
Description
The VPS53 (VPS53 subunit of GARP complex) is a protein-coding gene located on chromosome 17.
The VPS53 gene encodes a protein with similarity to the yeast Vps53p protein, which plays a role in retrograde vesicle trafficking in the late Golgi. Mutations in VPS53 can cause cerebello-cerebral atrophy type 2.
VPS53 is a component of two protein complexes: GARP and EARP. The GARP complex is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). This complex is crucial for the proper cycling of mannose 6-phosphate receptors between the TGN and endosomes, which is essential for lysosomal sorting of acid hydrolases like CTSD. The EARP complex participates in endocytic recycling. It associates with Rab4-positive endosomes and promotes the recycling of internalized transferrin receptor (TFRC) back to the plasma membrane.
VPS53 is also known as HCCS1, PCH2E, hVps53L, pp13624.
