Zinc-finger-Protein 423
Das Gen ZNF423 kodiert einen Transkriptionsfaktor. Mutationen in diesem Gen sind für verschiedene autosomal rezessive Ciliopathien verantwortlich so die Nephronophthise 14 und Joubert-Syndrom 19.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Gupta RK et al. (2010) Transcriptional control of preadipocyte determination by Zfp423.
|
2. |
Zhang LJ et al. (2015) Innate immunity. Dermal adipocytes protect against invasive Staphylococcus aureus skin infection.
|
3. |
Chaki M et al. (2012) Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
|
4. |
Tsai RY et al. (1997) Cloning and functional characterization of Roaz, a zinc finger protein that interacts with O/E-1 to regulate gene expression: implications for olfactory neuronal development.
|
5. |
Nagase T et al. (1998) Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
|
6. |
Hata A et al. (2000) OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.
|
7. |
Alcaraz WA et al. (2006) Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.
|
8. |
Cheng LE et al. (2007) Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis.
|
9. |
Orphanet article
Orphanet ID 313822
|
10. |
NCBI article
NCBI 23090
|
11. |
OMIM.ORG article
Omim 604557
|
Update: 14. August 2020