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:

Related Diseases:

Nephronophthisis 18
	CEP83

References:

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

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

3.	NCBI article NCBI 51134

4.	OMIM.ORG article Omim 615847

5.	Orphanet article Orphanet ID 404809