Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Armadillo repeat-containing protein 9

The protein encoded by the ARMC9 gene is localized at the basal cilium and is thought to play a role in ciliogenesis. Mutations cause autosomal recessive Joubert syndrome 30.


Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Joubert syndrome 30



Van De Weghe JC et al. (2017) Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish.

external link

Nagase T et al. (2001) Prediction of the coding sequences of unidentified human genes. XX. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

external link

NCBI article

NCBI 80210 external link

OMIM.ORG article

Omim 617612 external link

Orphanet article

Orphanet ID 492429 external link

Wikipedia article

Wikipedia EN (ARMC9) external link
Update: Aug. 14, 2020
Copyright © 2005-2022 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues | Website Credits