Armadillo repeat-containing protein 9 (ARMC9)

Armadillo repeat-containing protein 9 (ARMC9) is a cytoplasmic protein localized to the basal body and centrosome of primary cilia and contains LisH (lissencephaly type-1-like homology) and armadillo repeat domains[1][3]. It is required for proper cilium formation (ciliogenesis), ciliary microtubule modification, and positive regulation of Hedgehog signaling, likely through regulation of GLI2/GLI3 trafficking at the ciliary tip[3]. ARMC9 is crucial for vertebrate brain development; mutations in ARMC9 cause Joubert syndrome 30, a rare neurodevelopmental disorder featuring cerebellar hypoplasia, hypotonia, and abnormal eye movements[1][3]. It forms complexes with other basal body/ciliary proteins including TOGARAM1, CSPP1, CCDC66, and CEP290, suggesting a role as a scaffolding or organizing molecule for ciliary protein modules[4]. Evidence also implicates ARMC9 in modulating the cell cycle and nuclear protein localization[2]. There is currently no evidence that ARMC9 is a direct therapeutic target or that drugs are known to target it for disease treatment.

Other names

LisH domain-containing protein ARMC9KIAA1868FLJ12584KU-MEL-1Melanoma/melanocyte-specific tumor antigen KU-MEL-1NS21JBTS30ARMArmadillo repeat containing 9