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.
Western blot analysis of various lysates using NKX2-5 Rabbit pAb (A5651) at 1:1000 dilution._Secondary antibody: HRP-conjugated Goat anti-Rabbit IgG (H+L) (AS014) at 1:10000 dilution._Lysates/proteins: 25µg per lane._Blocking buffer: 3% nonfat dry milk in TBST._Detection: ECL Enhanced Kit (RM00021)._Exposure time: 60s.
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