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: Cell development/differentiation; Cytokine; Motility/polarity/chemotaxis; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 10 B4|10 32.21 cM
Cellular Component: extracellular region; extracellular space
Molecular Function: cytokine activity; protein binding; receptor agonist activity; transforming growth factor beta receptor binding
Biological Process: anatomical structure formation; anterior/posterior axis specification; anterior/posterior pattern formation; axial mesodermal cell fate specification; BMP signaling pathway; brain development; cell fate commitment; cell migration; cell migration involved in gastrulation; determination of left/right symmetry; digestive tract morphogenesis; embryonic cranial skeleton morphogenesis; embryonic heart tube development; embryonic pattern specification; embryonic placenta development; embryonic process involved in female pregnancy; endoderm development; floor plate morphogenesis; formation of anatomical boundary; gastrulation; gastrulation with mouth forming second; heart development; heart looping; in utero embryonic development; liver development; lung development; maternal placenta development; maternal process involved in parturition; mesendoderm development; mesoderm formation; negative regulation of cell differentiation; negative regulation of transcription from RNA polymerase II promoter; nervous system development; 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 proliferation; 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 apoptosis; regulation of gastrulation; regulation of MAPKKK cascade; regulation of signal transduction; repression of premature neural plate formation; stem cell maintenance; tissue morphogenesis; transforming growth factor beta receptor signaling pathway; trophectodermal cell differentiation; trophectodermal cellular morphogenesis; vasculature development
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