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:
Related Diseases:
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.
|
2. |
Otto EA et al. (2008) NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis.
|
3. |
Hoff S et al. (2013) ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3.
|
4. |
Bowers AJ et al. (2004) Nek8, a NIMA family kinase member, is overexpressed in primary human breast tumors.
|
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.
|
6. |
Sohara E et al. (2008) Nek8 regulates the expression and localization of polycystin-1 and polycystin-2.
|
7. |
Habbig S et al. (2012) The ciliopathy disease protein NPHP9 promotes nuclear delivery and activation of the oncogenic transcriptional regulator TAZ.
|
8. |
Manning DK et al. (2013) Loss of the ciliary kinase Nek8 causes left-right asymmetry defects.
|
9. |
Frank V et al. (2013) Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression.
|
10. |
NCBI article
NCBI 284086
|
11. |
OMIM.ORG article
Omim 609799
|
12. |
Orphanet article
Orphanet ID 209484
|
13. |
Wikipedia article
Wikipedia EN (NEK8)
|
Update: Aug. 14, 2020