NKX2-5

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NKX2-5

A gene on chromosome 5q34 that encodes a homeobox transcription factor implicated in commitment to, and/or differentiation of, the myocardial lineage. It acts as a transcriptional activator of ANF in co-operation with GATA4.

Molecular pathology
NKX2-5 mutations cause atrial septal defect with atrioventricular conduction defect, tetralogy of Fallot, and congenital hypothyroidism non-goitrous type 5.