Gene: NKX2-6

Alternate names for this Gene: CSX2|CTHM|NKX2F|NKX4-2

Gene Summary: 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.

Gene is located in Chromosome: 8

Location in Chromosome : 8p21.2

Description of this Gene: NK2 homeobox 6

Type of Gene: protein-coding

Gene: LOC107986930

Alternate names for this Gene:

Gene Summary:

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rs267606914 in NKX2-6;LOC107986930 gene and CONOTRUNCAL HEART MALFORMATIONS (disorder) PMID 24421281 2014 Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.

PMID 15649947 2005 Common arterial trunk associated with a homeodomain mutation of NKX2.6.

PMID 25195019 2014 Prevalence and spectrum of Nkx2.6 mutations in patients with congenital heart disease.

PMID 25380965 2015 A novel NKX2.6 mutation associated with congenital ventricular septal defect.