Gene Symbol | NKX2-6 |
Entrez Gene ID | 137814 |
Full Name | NK2 homeobox 6 |
Synonyms | CSX2,CTHM,NKX2F,NKX4-2 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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.[provided by RefSeq, Aug 2011]. |
Disorder MIM: | |
Disorder Html: | Persistent truncus arteriosus, 217095 (3); Conotruncal heart malformations, 217095 (3) |