Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

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

external link
3.

NCBI article

NCBI 51134 external link
4.

OMIM.ORG article

Omim 615847 external link
5.

Orphanet article

Orphanet ID 404809 external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues