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 |
Related Diseases:
References:
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
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10. |
NCBI article
NCBI 23090
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11. |
OMIM.ORG article
Omim 604557
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12. |
Wikipedia article
Wikipedia EN (ZNF423)
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Update: Aug. 14, 2020