Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

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
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Asphyxierende Thoraxdyplasie 06
NEK1

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 external link
14.

NCBI article

NCBI 4750 external link
15.

OMIM.ORG article

Omim 604588 external link
Update: 14. August 2020
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