NKX2-5
收藏rgd.mcw.edu2025-01-08 收录
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https://rgd.mcw.edu/rgdweb/report/gene/main.html?id=1606841
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资源简介：
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Oct 2009]
本基因编码含有同源盒的转录因子。该转录因子在心脏的形成和发育过程中发挥功能。该基因的突变可导致心房间隔缺损伴心房心室传导缺陷，以及法洛四联症，均为心脏畸形疾病。此外，该基因的突变还可能引起非甲状腺肿大的先天性甲状腺功能减退症非自身免疫型5。选择性剪接导致多种转录变体。[由RefSeq提供，2009年10月]
提供机构：
Rat Genome Database
