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.


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

Related Diseases:

Nephronophthisis 14
Joubert syndrome 19



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.


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.


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


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


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


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


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


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

Update: Sept. 26, 2018