Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Zinc finger protein 423

The gene ZNF423 encodes a transcription factor. Mutations in this gene are associated with autosomal recessive ciliopathies such as nephronophthisis 14 and Joubert syndrome 19.

Genetests:

Research Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Nephronophthisis 14
ZNF423
Joubert syndrome 19
ZNF423

References:

1.

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.

[^]
2.

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.

[^]
3.

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

[^]
4.

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

[^]
5.

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

[^]
6.

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

[^]
7.

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

[^]
8.

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

[^]
Update: Sept. 26, 2018