REEP6

receptor accessory protein 6

Ensembl:
ENSG00000115255
UniProt:
Q96HR9
OMIM:
609346
Synonyms:
C19ORF32, DP1L1, FLJ25383, TB1, YIP2F

Cilia effects upon perturbation of REEP6

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the REEP6 gene cause Retinitis Pigmentosa (PMID: 27889058).