ZNF423

Also known as Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ

Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene.

Gene data

ZNF423

Name: zinc finger protein 423
Type: protein-coding
Aliases: Ebfaz, JBTS19, NPHP14, OAZ, Roaz, ZFP423, Zfp104, hOAZ

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. Mutations in this gene are associated with nephronophthisis-14 and Joubert syndrome-19. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2012].

via MyGene.info

Wikidata facts

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HomoloGene ID: 9010
exact match: identifiers.org/ncbigene/23090
genomic end: 49891830
genomic start: 49521435
cytogenetic location: 16q12.1

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Zinc finger protein 423 is a protein that in humans is encoded by the ZNF423 gene.

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. Mice lacking the homologous gene Zfp423 have defects in midline brain development, especially in the cerebellum, as well as defects in olfactory development, and adipogenesis. Patients with mutations in ZNF423 have been reported in Joubert Syndrome and nephronophthisis.