| Primary Identifier | IPR039745 | Type | Family |
| Short Name | Vps54 |
| description | Vacuolar protein sorting-associated protein 54 (Vps54) is a component of the GARP (Vps52/53/54) complex that is involved in retrograde transport from early and late endosomes to the trans-Golgi network (TGN) []. Mammalian GARP complex has been shown to play a general role in the delivery of retrograde cargo into the TGN []. In mice, a point mutation (L967Q) in the Vps54 gene causes wobbler mutation, which is characterised by degeneration of upper and lower motor neurons leading to progressive muscle weakness. The wobbler mouse is an animal model for human motor neuron disease, such as amyotrophic lateral sclerosis (ALS) []. Interestingly, the protein mutation (L967Q) does not prevent its integration into the GARP complex but greatly reduces the half-life and levels of the protein in vivo []. |
