VPS54
Description
The VPS54 (VPS54 subunit of GARP complex) is a protein-coding gene located on chromosome 2.
VPS54 is part of the GARP complex, which plays a role in retrograde transport from early and late endosomes to the trans-Golgi network (TGN). The GARP complex ensures the proper cycling of mannose 6-phosphate receptors between the TGN and endosomes, a process crucial for the correct sorting of acid hydrolases like CTSD to lysosomes. VPS54 specifically acts as an anchor, tethering the GARP complex to the TGN. Notably, VPS54 is not involved in endocytic recycling.
VPS54 is also known as HCC8, PPP1R164, SLP-8p, VPS54L, WR, hVps54L.
Associated Diseases
- Charcot-Marie-Tooth disease axonal type 2Z
- Charcot-Marie-Tooth disease type 2B1
- amyotrophic lateral sclerosis type 2, juvenile
- juvenile amyotrophic lateral sclerosis
- Charcot-Marie-Tooth disease type 1F
- spinal muscular atrophy, type IV
- spinal muscular atrophy, type III
- Charcot-Marie-Tooth disease type 4F
- Charcot-Marie-Tooth disease X-linked dominant 1
- mitochondrial DNA depletion syndrome 7 (hepatocerebral type)
- 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
- amyotrophic lateral sclerosis-parkinsonism-dementia complex
