人 NKX2-5 (NM_004387) cDNA克隆

Accession: NM_004387
基因名称: NKX2-5
基因别名: CSX; CSX1; VSD3; CHNG5; HLHS2; NKX2E; NKX2.5; NKX4-1
基因描述: Homo sapiens NK2 homeobox 5 (NKX2-5), transcript variant 1, mRNA.
种属: Human
CDS区长度: 975 (查看编码区序列)
翻译后氨基酸长度: 324 (查看氨基酸序列)
Transcript Variant: This variant (1) represents the shortest transcript but encodes the longest isoform (1).
产品编号 产品名称 载体 规格 价格
G100273 人 NKX2-5 (NM_004387) cDNA克隆 pDONR223 2ug质粒 点击询价

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]