Nodal homolog
Function
Essential for mesoderm formation and axial patterning during embryonic development.
Involvement in disease
Heterotaxy, visceral, 5, autosomal
HTX5
An autosomal dominant 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. HTX5 clinical features include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncus communis, and dextrocardia.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TGF-beta family.
Cellular localization
- Secreted
Alternative names
Nodal homolog, NODAL