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 |
Related Diseases:
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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3. |
NCBI article
NCBI 203286
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4. |
OMIM.ORG article
Omim 615370
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5. |
Orphanet article
Orphanet ID 361188
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Update: Aug. 14, 2020