ARMC9
armadillo repeat containing 9
- Ensembl:
- ENSG00000135931
- UniProt:
- Q7Z3E5
- OMIM:
- 617612
- Synonyms:
- ARM, FLJ12584, KIAA1868, KU-MEL-1
Cilia effects upon perturbation of ARMC9
- Loss-of-function effect:
- Longer cilia
- Overexpression effect:
- No effect
Ciliogenesis screen results (2 screens)
- Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
- Breslow et al. 2018 (CRISPR) [CRISPR]: Positive Regulator (Hh signaling, casTLE effect=-2.3) PMID:29459680
Phenotypes
- Human ciliopathy phenotype:
- Joubert syndrome; Joubert syndrome 30
Ciliopathy associations
- Joubert Syndrome
Subcellular localization
basal body, cilia
Functional category
- Ciliary assembly/disassembly
Function
Ciliopathy gene JBTS30 (PMID:28625504). Interacts with coiled-coil domain containing 66 (CCDC66) and TOG array regulator of axonemal 1 (TOGARAM1) (32453716). Regulator of b- tubule length (30217954).Loss of function andof GFP-ARMC9B increased length of cilia, and overexpression of GFP-ARMC9B elongated distal segment (~30%), but effect was on geometry rather than whole cilium length(PMID: 30217954).
Model organism evidence
Danio rerio (2 references)
Mutations in ARMC9, which encodes a basal body protein, cause Joubert syndrome, a ciliopathy with defects in the brain, kidney, and eye.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.