NODAL: Essential for mesoderm formation and axial patterning during embryonic development. Defects in NODAL are the cause of visceral heterotaxy autosomal type 5 (HTX5). A form of visceral heterotaxy, a complex disorder due to disruption of the normal left-right asymmetry of the thoracoabdominal organs. It results in an abnormal arrangement of visceral organs, and a wide variety of congenital defects. Clinical features of visceral heterotaxy autosomal type 5 include situs inversus viscerum or situs ambiguus, congenital heart defect, transposition of the great vessels ventricular septal defect, atrial septal defect, truncuscommunis, and dextrocardia. Belongs to the TGF-beta family.
Protein type: Cytokine; Motility/polarity/chemotaxis; Secreted, signal peptide; Secreted; Cell development/differentiation
Chromosomal Location of Human Ortholog: 10q22.1
Cellular Component: extracellular space
Molecular Function: morphogen activity; growth factor activity; cytokine activity; transforming growth factor beta receptor binding; receptor agonist activity
Biological Process: embryonic placenta development; mesendoderm development; positive regulation of caspase activity; axial mesodermal cell fate specification; negative regulation of transcription from RNA polymerase II promoter; embryonic pattern specification; positive regulation of activin receptor signaling pathway; floor plate morphogenesis; vasculature development; regulation of gastrulation; positive regulation of cell-cell adhesion; trophectodermal cellular morphogenesis; heart looping; cell migration involved in gastrulation; maternal placenta development; placenta development; stem cell maintenance; embryonic process involved in female pregnancy; digestive tract morphogenesis; embryonic cranial skeleton morphogenesis; liver development; formation of anatomical boundary; positive regulation of angiogenesis; neural fold formation; repression of premature neural plate formation; maternal process involved in parturition; polarity specification of proximal/distal axis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription factor activity; brain development; positive regulation of epithelial cell proliferation; growth
Disease: Heterotaxy, Visceral, 5, Autosomal
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