Centrosomal protein of 83 kDa
The CEP83 gene encodes a protein that is recruited to centriols and involved in centriol maturation. Mutations are responsible for the autosomal recessive ciliopathy nephronophthisis 18.
Genetests:
Research |
Method |
Carrier testing |
Turnaround |
5 days |
Specimen type |
genomic DNA |
Related Diseases:
References:
1. |
Failler M et al. (2014) Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.
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2. |
Joo K et al. (2013) CCDC41 is required for ciliary vesicle docking to the mother centriole.
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3. |
NCBI article
NCBI 51134
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4. |
OMIM.ORG article
Omim 615847
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5. |
Orphanet article
Orphanet ID 404809
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Update: Aug. 14, 2020