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 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
	ZNF423

Joubert syndrome 19
	ZNF423

References:

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

12.	Wikipedia article Wikipedia EN (ZNF423)

Update: June 23, 2025

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