Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

external link
2.

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

external link
3.

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

external link
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.

external link
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.

external link
6.

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

external link
7.

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

external link
8.

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

external link
9.

Orphanet article

Orphanet ID 313822 external link
10.

NCBI article

NCBI 23090 external link
11.

OMIM.ORG article

Omim 604557 external link
12.

Wikipedia article

Wikipedia EN (ZNF423) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues