NKX2-5

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 ?
cardiac troponin T (Thermo Scientific), SHOX2 (Santa Cruz Biotechnology), and NKX2-5 (Santa Cruz Biotechnology).
One group comprised regulators that were predicted to be inhibited, including TGFP, BMP2/4, WNT1/3A, FGFR2 (fibroblast growth factor receptor 2), NFkB (nuclear factor kappa B), NKX2-5, Hedgehog, and a few others that regulate differentiation pathways.
NKX2-5 regulates the expression of [beta]-catenin and GATA4 in ventricular myocytes.
The NKX2-5 is a cardiac specific transcription factor, which initiates and regulates downstream transcriptional cascades of cardiogenesis.
All exons and exonintron boundaries of NKX2-5 and HAND1 genes were analyzed by SSCP, and suspected samples were sequenced for mutation analysis.
In NKX2-5 gene, we identified heterozygous Q170X (Gln170ter) mutation in one patient.
Conclusion: Our results suggest that mutations or sequence variations in HAND1 or NKX2-5 genes may play role in etiology or pathogenesis of atrial isomerism.
Calismamizda, NKX2-5 ve HAND1 genlerindeki mutasyonlarin atriyal izomerizm etiyolojisinde rol oynayip oynamadigini anlamak icin, atriyal izomerizm hastalarinda bu iki geni incelemeyi amacladik.
Yontemler: Bu vaka-kontrol calismasi atriyal izomerizm tanisi alan veya atriyal izomerizm nedeniyle cerrahi tedavi goren 70 hasta ve HAND1 icin 80, NKX2-5 icin, 40 saglikli kontrolden olusturulmustur.
NKX2-5 geninde, bir hastada heterozigot durumda Q170X (Gln170ter) mutasyonu tanimladik.
Sonuc: Sonuclarimiz, HAND1 veya NKX2-5 genlerindeki mutasyon veya dizi farkliliklarmin, atriyal izomerizm etiyolojlsi veya patogenezinde rol oynayabilecegini akla getirmektedir.