Anti-NKX2.5

In 1X PBS, pH 7.4, with 0.09% sodium azide. 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. Protein function: Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4. It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B. It is required for spleen development. [The UniProt Consortium]