ZIC3
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]
Biological Process
Biological Process atrial cardiac muscle tissue development Source:Ensembl
Biological Process axial mesoderm development Source:Ensembl
Biological Process central nervous system development Source:GO_Central1 Publication
Biological Process central nervous system segmentation Source:Ensembl
Biological Process cranial skeletal system development Source:Ensembl
Biological Process determination of digestive tract left/right asymmetry Source:BHF-UCL1 Publication
Biological Process determination of left/right asymmetry in nervous system Source:Ensembl
Biological Process determination of left/right symmetry Source:BHF-UCL1 Publication
Biological Process determination of liver left/right asymmetry Source:BHF-UCL1 Publication
Biological Process determination of pancreatic left/right asymmetry Source:BHF-UCL1 Publication
Biological Process embryonic pattern specification Source:Ensembl
Biological Process face development Source:Ensembl
Biological Process germ-line stem cell population maintenance Source:Ensembl
Biological Process heart looping Source:BHF-UCL1 Publication
Biological Process hippocampus development Source:Ensembl
Biological Process left/right axis specification Source:Ensembl
Biological Process limb morphogenesis Source:Ensembl
Biological Process lung development Source:BHF-UCL1 Publication
Biological Process mRNA transcription by RNA polymerase II Source:Ensembl
Biological Process neural plate development Source:Ensembl
Biological Process neuron differentiation Source:Ensembl
Biological Process olfactory bulb development Source:Ensembl
Biological Process outer ear morphogenesis Source:Ensembl
Biological Process paraxial mesoderm development Source:Ensembl
Biological Process positive regulation of DNA-templated transcription Source:UniProtKB
Biological Process positive regulation of transcription by RNA polymerase II Source:UniProtKB1 Publication
Biological Process primitive streak formation Source:Ensembl
Biological Process regulation of DNA-binding transcription factor activity Source:Ensembl
Biological Process regulation of transcription by RNA polymerase II Source:GO_Central1 Publication
Biological Process skeletal system development Source:Ensembl
Biological Process smoothened signaling pathway Source:Ensembl
Biological Process stem cell differentiation Source:Ensembl
Involvement in disease
Heterotaxy, visceral, 1, X-linked (HTX1):
A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. Visceral heterotaxy or situs ambiguus results in randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another. It can be associated with a variety of congenital defects including cardiac malformations.
VACTERL association X-linked with or without hydrocephalus (VACTERLX):
A syndrome characterized by a non-random association of congenital defects. Affected individuals manifest vertebral anomalies (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula (TE), renal anomalies (R) such as urethral atresia with hydronephrosis, and limb anomalies (L) such as hexadactyly, humeral hypoplasia, radial aplasia, and proximally placed thumb. Some patients may have hydrocephalus. Some cases of VACTERL-H are associated with increased chromosome breakage and rearrangement.
Congenital heart defects, multiple types, 1, X-linked (CHTD1):
A disorder characterized by congenital developmental abnormalities involving structures of the heart. Common defects include transposition of the great arteries, aortic stenosis, atrial septal defect, ventricular septal defect, pulmonic stenosis, and patent ductus arteriosus. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions.