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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 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
ANKS6

References:

1.

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

external link
2.

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

external link
3.

NCBI article

NCBI 203286 external link
4.

OMIM.ORG article

Omim 615370 external link
5.

Orphanet article

Orphanet ID 361188 external link
Update: Aug. 14, 2020
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