Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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.

Genetests:

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
ARMC9

References:

1.

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.

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2.

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.

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Update: Oct. 11, 2018