Protein Domain : Vacuolar protein sorting-associated protein 53 IPR039766

Type  Family
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 [].
Short Name  Vps53
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