ARMC9

Chr 2

armadillo repeat containing 9

Also known as: ARM, JBTS30, KU-MEL-1, NS21

NCBI Gene: 80210 ENSG00000135931 UniProt: Q7Z3E5

The ARMC9 protein is required for ciliogenesis, specifically regulating ciliary microtubule modifications and cilium length, and acts as a positive regulator of hedgehog signaling by participating in GLI2 and GLI3 protein trafficking at the ciliary tip. Biallelic mutations cause Joubert syndrome 30, inherited in an autosomal recessive pattern. This gene is not highly constrained against loss-of-function variants.

ResearchSummary from RefSeq, OMIM, UniProt

Predicted to be involved in cilium assembly and positive regulation of smoothened signaling pathway. Located in centriole and ciliary basal body. Implicated in Joubert syndrome 30. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtJoubert syndrome 30

Clinical highlights

Gene-disease validity (ClinGen)

Joubert syndrome 30 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.05

LOEUF

LOF

Mechanism· G2P

Some data sources returned errors (1)

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