Serin/Threonin-Proteinkinase NEK1
Das NEK1-Gen kodiert eine Proteinkinase, die eine Funktion bei der DNA-Reparatur, Neuronenentwicklung und bei der Zilienbildung besitzt. Mutationen verursachen das autosomal rezessive oder digenisch rezessive SRTD-Syndrom 6.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Nagase T et al. (2001) Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
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2. |
El Hokayem J et al. (2012) NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
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3. |
Thiel C et al. (2011) NEK1 mutations cause short-rib polydactyly syndrome type majewski.
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4. |
Janaswami PM et al. (1997) Identification and genetic mapping of a new polycystic kidney disease on mouse chromosome 8.
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5. |
Letwin K et al. (1992) A mammalian dual specificity protein kinase, Nek1, is related to the NIMA cell cycle regulator and highly expressed in meiotic germ cells.
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6. |
Vogler C et al. (1999) Clinical and pathologic findings in two new allelic murine models of polycystic kidney disease.
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7. |
Upadhya P et al. (2000) Mutations in a NIMA-related kinase gene, Nek1, cause pleiotropic effects including a progressive polycystic kidney disease in mice.
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8. |
Surpili MJ et al. (2003) Identification of proteins that interact with the central coiled-coil region of the human protein kinase NEK1.
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9. |
Polci R et al. (2004) NIMA-related protein kinase 1 is involved early in the ionizing radiation-induced DNA damage response.
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10. |
Chen Y et al. (2008) Never-in-mitosis related kinase 1 functions in DNA damage response and checkpoint control.
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11. |
Hilton LK et al. (2009) The NIMA-related kinase NEK1 cycles through the nucleus.
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12. |
Fang X et al. (2015) The NEK1 interactor, C21ORF2, is required for efficient DNA damage repair.
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13. |
Orphanet article
Orphanet ID 258621
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14. |
NCBI article
NCBI 4750
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15. |
OMIM.ORG article
Omim 604588
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Update: 14. August 2020