ZNF423 Antibody – Goat Polyclonal

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]

ZNF423: Transcription factor that can both act as an activator or a repressor depending on the context. Plays a central role in BMP signaling and olfactory neurogenesis. Associates with SMADs in response to BMP2 leading to activate transcription of BMP target genes. Acts as a transcriptional repressor via its interaction with EBF1, a transcription factor involved in terminal olfactory receptor neurons differentiation; this interaction preventing EBF1 to bind DNA and activate olfactory-specific genes. Involved in olfactory neurogenesis by participating in a developmental switch that regulates the transition from differentiation to maturation in olfactory receptor neurons. Controls proliferation and differentiation of neural precursors in cerebellar vermis formation. Defects in ZNF423 can be a cause of nephronophthisis-related ciliopathies (NPHP-RC), a group of recessive diseases that affect kidney, retina and brain. ZNF423 mutations have been found in patients with nephronophthisis, cerebellar vermis hypoplasia and situs inversus, and Joubert syndrome. Belongs to the krueppel C2H2-type zinc-finger protein family.

Protein type: DNA-binding; C2H2-type zinc finger protein

Chromosomal Location of Human Ortholog: 16q12

Cellular Component: nucleus

Molecular Function: DNA binding; metal ion binding; protein binding

Biological Process: cell differentiation; negative regulation of transcription, DNA-dependent; nervous system development; Notch signaling pathway; positive regulation of BMP signaling pathway; positive regulation of transcription, DNA-dependent; transcription, DNA-dependent

Disease: Nephronophthisis 14