Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Ankyrin repeat and SAM domain-containing protein 6

The ANKS6 gene encodes a ciliary protein. Mutations cause a recessive ciliopathy, Nephronophthisis 16.


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 16



Hoff S et. al. (2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.


Kaisaki PJ et. al. () Genomic organization and mutation screening of the human ortholog of Pkdr1 associated with polycystic kidney disease in the rat.

Update: Sept. 26, 2018