VPS50

VPS50 subunit of EARP/GARPII complex

Ensembl:
ENSG00000004766
UniProt:
Q96JG6
OMIM:
616465
Synonyms:
CCDC132, DKFZP313I2429, FLJ20097, KIAA1861, VPS54L

Cilia effects upon perturbation of VPS50

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
neurodevelopmental disorder with microcephaly, seizures, and neonatal cholestasis

Subcellular localization

basal body, cilia, transition zone

Functional category

  • Ciliary assembly/disassembly
  • Transition zone

Function

VPS50 has localized in ciliary tip, basal body, transition zone.