Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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NIMA-related kinase 8

The NEK8 gene encodes a serine/threionine protein kinase that plays a role in cell cycle regulation. Mutations seem to cause autosomal recessive nephronophthisis 9

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 09
NEK8
Renal-hepatic-pancreatic dysplasia 2
NEK8

References:

1.

Liu S et al. (2002) A defect in a novel Nek-family kinase causes cystic kidney disease in the mouse and in zebrafish.

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2.

Otto EA et al. (2008) NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.

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3.

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

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4.

Bowers AJ et al. (2004) Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.

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5.

Valkova N et al. (2005) Nek8 mutation causes overexpression of galectin-1, sorcin, and vimentin and accumulation of the major urinary protein in renal cysts of jck mice.

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6.

Sohara E et al. (2008) Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.

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7.

Habbig S et al. (2012) The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.

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8.

Manning DK et al. (2013) Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.

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9.

Frank V et al. (2013) Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.

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10.

NCBI article

NCBI 284086 external link
11.

OMIM.ORG article

Omim 609799 external link
12.

Orphanet article

Orphanet ID 209484 external link
13.

Wikipedia article

Wikipedia EN (NEK8) external link
Update: Aug. 14, 2020
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