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 Mesodermal Commitment Pathway and Signaling pathways regulating pluripotency of stem cells. 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 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.