Aliases for ZIC3 Gene
External Ids for ZIC3 Gene
Previous HGNC Symbols for ZIC3 Gene
Previous GeneCards Identifiers for ZIC3 Gene
This gene encodes a member of the ZIC family of C2H2-type zinc finger proteins. This nuclear protein probably functions as a transcription factor in early stages of left-right body axis formation. Mutations in this gene cause X-linked visceral heterotaxy, which includes congenital heart disease and left-right axis defects in organs. [provided by RefSeq, Jul 2008]
GeneCards Summary for ZIC3 Gene
ZIC3 (Zic Family Member 3) is a Protein Coding gene. Diseases associated with ZIC3 include Heterotaxy, Visceral, 1, X-Linked and Vacterl Association, X-Linked, With Or Without Hydrocephalus. Among its related pathways are Signaling pathways regulating pluripotency of stem cells and Mesodermal Commitment Pathway. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and RNA polymerase II proximal promoter sequence-specific DNA binding. An important paralog of this gene is ZIC2.
UniProtKB/Swiss-Prot Summary for ZIC3 Gene
Acts as transcriptional activator. Required in the earliest stages in both axial midline development and left-right (LR) asymmetry specification. Binds to the minimal GLI-consensus sequence 5'-GGGTGGTC-3'.