This gene encodes a homeobox-containing transcriptionnfactor. This transcription factor functions in heart formation andndevelopment. Mutations in this gene cause atrial septal defect withnatrioventricular conduction defect, and also tetralogy of Fallot,nwhich are both heart malformation diseases. Mutations in this genencan also cause congenital hypothyroidism non-goitrous type 5, annon-autoimmune condition. Alternative splicing results in multiplentranscript variants.
应用类型
WB
免疫原
This NKX2-5 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 82-111 amino acids from the Central region of human NKX2-5.
