RP9

RP9 pre-mRNA splicing factor

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000164610
UniProt:
Q8TA86
OMIM:
607331
Synonyms:
PAP-1

Ciliogenesis screen results (3 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
decreased prepulse inhibition, decreased body length
Human ciliopathy phenotype:
retinitis pigmentosa

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

References: PMID:15474994

Subcellular localization

nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the RP9 gene cause Retinitis Pigmentosa (PMID: 15474994).