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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.

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
2.

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
3.

NCBI article

NCBI 80210 external link
4.

OMIM.ORG article

Omim 617612 external link
5.

Orphanet article

Orphanet ID 492429 external link
6.

Wikipedia article

Wikipedia EN (ARMC9) external link
Update: Aug. 14, 2020
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