Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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.

Gentests:

Forschung Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Forschung Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Nephronophthise 15
CEP164

Referenzen:

1.

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

[^]
2.

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

[^]
3.

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.

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

NCBI article

NCBI 22897 [^]
9.

OMIM.ORG article

Omim 614848 [^]
10.

Orphanet article

Orphanet ID 313834 [^]
Update: 29. April 2019