NODAL

nodal growth differentiation factor

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate the mature protein, which regulates early embryonic development. This protein is required for maintenance of human embryonic stem cell pluripotency and may play a role in human placental development. Mutations in this gene are associated with heterotaxy, a condition characterized by random orientation of visceral organs with respect to the left-right axis. [provided by RefSeq, Aug 2016]

From UniProt:

Essential for mesoderm formation and axial patterning during embryonic development.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Visceral heterotaxy 5, autosomal

From UniProt:

Heterotaxy, visceral, 5, autosomal (HTX5): 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 been associated with 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. [MIM:270100]

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1

Molecular Location: base pairs 70,431,936 to 70,441,709 on chromosome 10 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 10q22.1, which is the long (q) arm of chromosome 10 at position 22.1