Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 18
CEP83

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 [^]
4.

OMIM.ORG article

Omim 615847 [^]
5.

Orphanet article

Orphanet ID 404809 [^]
Update: April 29, 2019