| Primary Identifier | IPR039766 | Type | Family |
| Short Name | Vps53 |
| description | This entry represents Vps53 from eukaryotes. Vps53 is part of the of the GARP (Golgi-associated retrograde protein) complex involved in retrograde transport from early and late endosomes to late Golgi [, , ]. Mutations in the human Vps53 gene cause pontocerebellar hypoplasia 2E (PCH2E), a neurodegenerative disorder characterised by progressive cerebello-cerebral atrophy, profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy []. |
