Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

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

Verknüpfte Erkrankungen:

Nephronophthise 14
ZNF423
Joubert-Syndrom 19
ZNF423

Referenzen:

1.

Gupta RK et al. (2010) Transcriptional control of preadipocyte determination by Zfp423.

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2.

Zhang LJ et al. (2015) Innate immunity. Dermal adipocytes protect against invasive Staphylococcus aureus skin infection.

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3.

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

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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.

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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.

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6.

Hata A et al. (2000) OAZ uses distinct DNA- and protein-binding zinc fingers in separate BMP-Smad and Olf signaling pathways.

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7.

Alcaraz WA et al. (2006) Zfp423 controls proliferation and differentiation of neural precursors in cerebellar vermis formation.

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8.

Cheng LE et al. (2007) Zfp423/OAZ participates in a developmental switch during olfactory neurogenesis.

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9.

Orphanet article

Orphanet ID 313822 [^]
10.

NCBI article

NCBI 23090 [^]
11.

OMIM.ORG article

Omim 604557 [^]
Update: 9. Mai 2019