RRP7A
ribosomal RNA processing 7 homolog A
Tier: Gold Standard Ciliary Genes
- Ensembl:
- ENSG00000189306
- UniProt:
- Q9Y3A4
- OMIM:
- 619449
- Synonyms:
- CGI-96, RRP7
Cilia effects upon perturbation of RRP7A
- Cilia number / % ciliated:
- Incrased cilia number
- Loss-of-function effect:
- No effect
Ciliogenesis screen results (1 screens)
- Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
Subcellular localization
cilia, flagella, centrosome, nucleoli
References: PMID:33199730
Functional category
- Ciliary assembly/disassembly
- Neurogenesis & migration
Function
Localizes to centrosomes, cilia and nucleoli. Highly expressed in neural stem cells in developing human forebrain, and a missense mutation is associated with microcephaly. Targeted mutation of Rrp7a leads to defects in neurogenesis and proliferation in a mouse stem cell model and in zebrafish causes reduced brain size, impaired neurogenesis and cell proliferation, and defective ribosomal RNA processing. Patient-derived fibroblasts display defects in ribosomal RNA processing, primary cilia resorption, and cell cycle progression (33199730)