NIMA-Kinas 8
Das NEK8-Gen kodiert eine Serin/Threonin-Protein-Kinase, welche bei der Regulation des Zellzyklus eine Rolle spielt. Mutationen führen zur autosomal rezessiven Nephronopthiese 9.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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
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11. |
OMIM.ORG article
Omim 609799
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12. |
Orphanet article
Orphanet ID 209484
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Update: 14. August 2020