RBP3
retinol binding protein 3
- Ensembl:
- ENSG00000265203
- UniProt:
- P10745
- OMIM:
- 180290
- Synonyms:
- D10S64, D10S65, D10S66, IRBP, RP66
Cilia effects upon perturbation of RBP3
- Cilia number / % ciliated:
- Decreased cilia number
- Loss-of-function effect:
- Shorter cilia
Ciliogenesis screen results (4 screens)
- Kim2016: Not Reported
- Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-11.53) PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
- Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381
Phenotypes
- Human ciliopathy phenotype:
- retinitis pigmentosa
Subcellular localization
cilia associated gene
Functional category
- Ciliary assembly/disassembly
Function
Mutations in the RBP3 gene cause Retinitis Pigmentosa (PMID: 19074801).