Health / Medical Topics |
NKX2-5 wt Allele
Human NKX2-5 wild-type allele is located in the vicinity of 5q34 and is approximately 3 kb in length. This allele, which encodes homeobox protein Nkx-2.5, is involved in both heart development and the modulation of transcription. Mutation of the gene is associated with atrial septal defect type 7, tetralogy of Fallot, and congenital hypothyroidism non-goitrous type 5. (NCI Thesaurus)
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