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:
Related Diseases:
References:
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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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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.
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3. |
NCBI article
NCBI 80210
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4. |
OMIM.ORG article
Omim 617612
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5. |
Orphanet article
Orphanet ID 492429
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6. |
Wikipedia article
Wikipedia EN (ARMC9)
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Update: Aug. 14, 2020