ARMC9

Function

Involved in ciliogenesis (PubMed:32453716). It is required for appropriate acetylation and polyglutamylation of ciliary microtubules, and regulation of cilium length (PubMed:32453716). Acts as a positive regulator of hedgehog (Hh)signaling (By similarity). May participate in the trafficking and/or retention of GLI2 and GLI3 proteins at the ciliary tip (By similarity).

Involvement in disease

Joubert syndrome 30

JBTS30

A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS30 inheritance is autosomal recessive.

None

The disease is caused by variants affecting the gene represented in this entry.

Tissue Specificity

Strongly expressed in most melanomas and melanocytes. Weakly expressed in the testis.

Cellular localization

• Cytoplasm
• Cytoskeleton
• Cilium basal body
• Cell projection
• Cilium
• Cytoplasm
• Cytoskeleton
• Microtubule organizing center
• Centrosome
• Centriole
• Localized to the proximal region in cilia. Stimulation of Hh signaling leads to redistribution of ARMC9 toward the ciliary tip within 6 hours, follow by a gradual return to its original proximal location (By similarity). Localizes to the daughter centriole of the primary cilium in RPE1 cells (PubMed:28625504).

Alternative names

KIAA1868, ARMC9, LisH domain-containing protein ARMC9, Armadillo repeat-containing protein 9, Melanoma/melanocyte-specific tumor antigen KU-MEL-1, NS21

Database links

swissprot:Q7Z3E5 genbank:NM_025139 genbank:NP_079415 entrezGene:80210