NKX2-6 Antibody – Rabbit Polyclonal

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]

NKX2-6: In conjunction with NKX2-5, may play a role in both pharyngeal and cardiac embryonic development. Defects in NKX2-6 may be a cause of conotruncal heart malformations (CTHM). CTHM defines 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. Belongs to the NK-2 homeobox family.

Protein type: DNA-binding

Chromosomal Location of Human Ortholog: 8p21.2

Cellular Component: nucleus

Molecular Function: sequence-specific DNA binding; transcription factor activity

Biological Process: tongue development; pericardium development; hypothalamus development; pharyngeal system development; transcription, DNA-dependent; regulation of transcription, DNA-dependent; atrial cardiac muscle cell development; gut development; positive regulation of cell proliferation; ventricular cardiac muscle cell development; embryonic heart tube development; cell differentiation; negative regulation of apoptosis

Disease: Conotruncal Heart Malformations