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: Motility/polarity/chemotaxis; Secreted; Cytokine; Secreted, signal peptide; Cell development/differentiation
Chromosomal Location of Human Ortholog: 10q22.1
Cellular Component: extracellular space
Molecular Function: cytokine activity; growth factor activity; morphogen activity; receptor agonist activity; transforming growth factor beta receptor binding
Biological Process: axial mesodermal cell fate specification; BMP signaling pathway; brain development; cell migration involved in gastrulation; digestive tract morphogenesis; embryonic cranial skeleton morphogenesis; embryonic pattern specification; embryonic placenta development; embryonic process involved in female pregnancy; floor plate morphogenesis; formation of anatomical boundary; heart looping; liver development; maternal placenta development; maternal process involved in parturition; mesendoderm development; negative regulation of transcription from RNA polymerase II promoter; neural fold formation; placenta development; polarity specification of proximal/distal axis; positive regulation of activin receptor signaling pathway; positive regulation of angiogenesis; positive regulation of caspase activity; positive regulation of cell-cell adhesion; positive regulation of epithelial cell proliferation; positive regulation of transcription factor activity; positive regulation of transcription from RNA polymerase II promoter; regulation of gastrulation; repression of premature neural plate formation; stem cell maintenance; trophectodermal cellular morphogenesis; vasculature development
Disease: Heterotaxy, Visceral, 5, Autosomal
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