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Protein-coding gene in the species Homo sapiens From Wikipedia, the free encyclopedia
Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene.[5][6][7]
ZNF423 | |||||||||||||||||||||||||||||||||||||||||||||||||||
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Aliases | ZNF423, Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ, zinc finger protein 423 | ||||||||||||||||||||||||||||||||||||||||||||||||||
External IDs | OMIM: 604557; MGI: 1891217; HomoloGene: 9010; GeneCards: ZNF423; OMA:ZNF423 - orthologs | ||||||||||||||||||||||||||||||||||||||||||||||||||
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Wikidata | |||||||||||||||||||||||||||||||||||||||||||||||||||
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The protein encoded by this gene is a nuclear protein that belongs to the family of Kruppel-like C2H2 zinc finger proteins. It functions as a DNA-binding transcription factor by using distinct zinc fingers in different signaling pathways. Thus, it is thought that this gene may have multiple roles in signal transduction during development.[7] Mice lacking the homologous gene Zfp423 have defects in midline brain development, especially in the cerebellum,[8][9][10] as well as defects in olfactory development,[11] and adipogenesis.[12][13] Patients with mutations in ZNF423 have been reported in Joubert Syndrome and nephronophthisis.[14]
ZNF423 has been shown to interact with EBF1,[15] PARP1,[16] Notch intracellular domain,[17] retinoic acid receptor,[18] and CEP290.[14]
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