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.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 16
ANKS6

References:

1.

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

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2.

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

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Update: Sept. 26, 2018