This gene encodes a homeobox-containing protein that belongs to the NK-2 homeobox family. This protein is a vertebrate homolog of Drosophila homeobox-containing protein called 'tinman', which has been shown to be essential for development of the heart-like dorsal vessel. In conjunction with related gene, NKX2-5, this gene may play a role in both pharyngeal and cardiac embryonic development. Mutations in this gene are associated with persistent truncus arteriosus.[provided by RefSeq, Aug 2011]
Function:
In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development.
Subcellular Location:
Nucleus
DISEASE:
A group of congenital heart defects involving the outflow tracts. Examples include truncus arteriosus communis, double-outlet right ventricle and transposition of great arteries. Truncus arteriosus communis is characterized by a single outflow tract instead of a separate aorta and pulmonary artery. In transposition of the great arteries, the aorta arises from the right ventricle and the pulmonary artery from the left ventricle. In double outlet of the right ventricle, both the pulmonary artery and aorta arise from the right ventricle.
Similarity:
Belongs to the NK-2 homeobox family. Contains 1 homeobox DNA-binding domain.
SWISS:
P43688
Gene ID:
3692
Database links:
Entrez Gene: 137814 Human
Entrez Gene: 3692 Mouse
Omim: 611770 Human
SwissProt: A6NCS4 Human
SwissProt:
P43688 Mouse
Unigene:
532654 Human
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