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Description
NKX2.5: NK2 transcription factor related, locus 5 (Drosophila), also known as CSX. It is 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.
Immunogen
Purified recombinant fragment of human NKX2.5 expressed in E. Coli.