Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Zentrosomales Protein von 164 kDa

Das Gen CEP164 kodiert ein zentrosomales Protein, welches bei der Organisation der Mikrotubuli, der Reparatur von DNA-Schäden und der Segregation von Chromosomen beteiligt ist. Mutationen in diesem Gen sind für die autosomal rezessive Nephronophthise 15 verantwortlich.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Nephronophthise 15
CEP164

Referenzen:

1.

Chaki M et. al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.

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2.

Kikuno R et. al. (1999) Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

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3.

Andersen JS et. al. (2003) Proteomic characterization of the human centrosome by protein correlation profiling.

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4.

Graser S et. al. (2007) Cep164, a novel centriole appendage protein required for primary cilium formation.

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5.

Sivasubramaniam S et. al. (2008) Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.

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6.

Pan YR et. al. (2009) UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.

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7.

Humbert MC et. al. (2012) ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.

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