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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.


Research 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:

Nephronophthisis 18



Failler M et al. (2014) Mutations of CEP83 cause infantile nephronophthisis and intellectual disability.

external link

Joo K et al. (2013) CCDC41 is required for ciliary vesicle docking to the mother centriole.

external link

NCBI article

NCBI 51134 external link

OMIM.ORG article

Omim 615847 external link

Orphanet article

Orphanet ID 404809 external link
Update: Aug. 14, 2020
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