ARMC9
Chr 2ARarmadillo repeat containing 9
Also known as: ARM, JBTS30, KU-MEL-1, NS21
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.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ARMC9 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools