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.
References in periodicals archive ?
For real-time quantitative PCR, the following predeveloped TaqMan[R] assays were purchased from Applied Biosystems (Thermo Fisher Scientific; Waltham, MA, USA): octamer-binding transcription factor 4 (OCT4) and the divergent homeodomain protein NANOG as undifferentiated stem cell markers [20-22], BRACHYURY as mesoderm marker [23], the homeobox protein NKX2.
El grupo de Reamon-Buettner y Borlak, ha informado que la mayoria de las enfermedades cardiacas, son de origen somatico y estan relacionadas con mutaciones en los genes NKX2.
Mutations in the cardiac transcription factor NKX2.