Gene: NODAL

Alternate names for this Gene: HTX5

Gene Summary: 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.

Gene is located in Chromosome: 10

Location in Chromosome : 10q22.1

Description of this Gene: nodal growth differentiation factor

Type of Gene: protein-coding

rs104894169 in NODAL gene and Heterotaxy, Visceral, 5, Autosomal PMID 9354794 1997 X-linked situs abnormalities result from mutations in ZIC3.

PMID 19064609 2009 Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

rs121909283 in NODAL gene and Multiple congenital anomalies PMID 16721152 2006 Heterotaxia syndromes and their abdominal manifestations.

PMID 8429908 1993 Nodal is a novel TGF-beta-like gene expressed in the mouse node during gastrulation.

PMID 11709181 2001 Nodal signaling in early vertebrate embryos: themes and variations.

PMID 19553149 2009 Cumulative ligand activity of NODAL mutations and modifiers are linked to human heart defects and holoprosencephaly.

PMID 19064609 2009 Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.

PMID 8610013 1996 Conserved left-right asymmetry of nodal expression and alterations in murine situs inversus.

PMID 22352765 2012 Novel mutations of NODAL gene in Chinese patients with congenital heart disease.

PMID 25298693 2014 Non-cardiac issues in patients with heterotaxy syndrome.

PMID 19933292 2010 Familial transposition of the great arteries caused by multiple mutations in laterality genes.

PMID 9354794 1997 X-linked situs abnormalities result from mutations in ZIC3.