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: C2H2-type zinc finger protein; DNA-binding
Chromosomal Location of Human Ortholog: 8|8 C3
Cellular Component: nucleoplasm; nucleus
Molecular Function: DNA binding; metal ion binding; nucleic acid binding; protein binding; protein heterodimerization activity; protein homodimerization activity; sequence-specific DNA binding
Biological Process: cell differentiation; multicellular organism development; negative regulation of transcription, DNA-dependent; nervous system development; Notch signaling pathway; positive regulation of BMP signaling pathway; positive regulation of transcription, DNA-templated; regulation of transcription, DNA-templated; transcription, DNA-dependent
Show more