ARMC9

armadillo repeat containing 9

Tier: Gold Standard Ciliary Genes

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

References: PMID:28625504, PMID:36580738

Subcellular localization

basal body, cilia

References: PMID:28625504, PMID:32453716, PMID:30217954

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).

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