Entrez 55275 | Ensembl ENSG00000141252 | |
Aliases VPS53, HCCS1, PCH2E, hVps53L, pp13624, GARP complex subunit External IDs MGI: 1915549 HomoloGene: 6264 GeneCards: VPS53 | ||
Vacuolar protein sorting 53 homolog (S. cerevisiae) is a protein that in humans is encoded by the VPS53 gene.
Function
This gene encodes a protein with sequence similarity to the yeast Vps53p protein. Vps53p is involved in retrograde vesicle trafficking in late Golgi. [provided by RefSeq, Jul 2008].
Mutations in VPS53 cause cerebello-cerebral atrophy type 2 .
References
VPS53 Wikipedia(Text) CC BY-SA