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Validated All-in-One™ qPCR Primer for NKX2-5(NM_004387.4) Search again
Product ID:
HQP152135
(click here to view gene annotation page)
Powered by BiozSpecies:
Human
Symbol:
Alias:
CHNG5, CSX, CSX1, HLHS2, NKX2.5, NKX2E, NKX4-1, VSD3
Gene Description:
NK2 homeobox 5
Target Gene Accession:
NM_004387.4(click here to view gene page)
Estimated Delivery:
Approximately 1-3 weeks, but may vary. Please email sales@genecopoeia.com or call 301-762-0888 to confirm ETA.
Important Note:
By default, qPCR primer pairs are designed to measure the expression level of the splice variant (accession number) you selected for this gene WITHOUT consideration of other possible variants of this gene. If this gene has multiple variants, and you would like to measure the expression levels of one particular variant, multiple variants, or all variants, please contact us for a custom service project at inquiry@genecopoeia.com.
Summary
Homeobox-containing genes play critical roles in regulating tissue-specific gene expression essential for tissue differentiation, as well as determining the temporal and spatial patterns of development (Shiojima et al., 1995 [PubMed 7665173]).
Gene References into function
- Csx/Nkx2-5 plays a critical role in maintaining highly differentiated cardiac phenotype and in protecting the heart from stresses
- Novel point mutation is associated with congenital heart disease.
- The Polycomb-group gene Rae28 sustains Nkx2.5/Csx expression and is essential for cardiac morphogenesis.
- Nkx-2.5 and GATA-4 play prime roles in Dio2 gene regulation in the human heart and suggests that it is their synergistic action in humans that causes the differential expression of the cardiac Dio2 gene between humans and rats.
- NKX2-5 mutations are a relatively infrequent cause of sporadic ASD (atrial septal defect) and HLHS ( hypoplastic left heart syndrome). Screening for NKX2-5 mutations warranted in individuals with ASD family history, irrespective of AV conduction block.
- Role in heart development and disease. Review.
- effects of gene mutations on ventricular development
- A novel variant t(5;14) whereby NKX2-5, a related (NK-like family) homeobox gene located approximately 2 Mb telomeric of TLX3, juxtaposes BCL11B in a subset of T-cell ALL cell lines is described.
- NKX2.5 mutations occur in a small percentage of patients with various congenital heart diseases. NKX2.5 mutations in non-homeodomain regions may be important in the development of human structural cardiac defects.
- Mutated in cardiac malformations
- Nkx-2.5 is a novel relevant transcriptional regulator of mammary NIS (sodium/iodide symporter)
- somatic nature of NKX2-5 mutations associated with complex cardiac malformations
- mutation reduced transcription activating function, synergism with partners at the ANF and connexin-40 (Cx40) promoters
- NKX2.5 inhibits myocyte differentiation and myotube formation, and up-regulates Gata4 and Tbx5 expression
- mutations of somatic origin in the binding domains of NKX2-5 were associated specifically with atrioventricular or ventricular septal defects and resulted in loss of protein function
- expression of GATA-4 and GATA-6 is up-regulated prior to the transcriptional activation of Nkx 2.5 during cardiogenesis
- NF1 and Nkx2-5 might be involved in heart development and congenital heart disease
- Nkx2-5(-/-) embryos exhibit thyroid bud hypoplasia, providing evidence that NKX2-5 plays a role in thyroid organogenesis
- In T-cell acute lymphoblastic leukemia, alternative t(5;14)(q35;q32.2) forms effect dysregulation of either TLX3 or NKX2-5 homeobox genes at 5q35 by juxtaposition with 14q32.2 breakpoints dispersed across the BCL11B downstream genomic desert.
- Tbx18 interacts with Gata4 and Nkx2-5 and competes Tbx5-mediated activation of the cardiac Natriuretic peptide precursor type a-promoter. Tbx18 down-regulates Tbx6-activated Delta-like 1 expression in the somitic mesoderm in vivo
- Our results do not provide strong genetic evidence for the pathogenecity of the p.Arg25Cys alteration in the NKX2-5 gene.
- it is very likely that this novel mutation causes a complete loss of NKX2-5 function and haploinsufficiency is the pathophysiological mechanism underlying the autosomal-dominant inherited congenital heart disease in the family.
- Mutations in NKX2.5,are infrequently found in patients with congenital cardiac septal defects
- NKX2-5 expression in T-ALL cell lines reactivates embryonal pathways contributing to leukemogenesis. MEF2C is activated by NKX2-5 at both the RNA and protein levels.
- Transgene expression resulted in cardiac conduction defects, increased expression of the cardiac-specific transcription factor NKX2-5 and profound disturbances in connexin 40 and connexin 43.
- analysis of transcriptional activation of the cardiac homeobox gene CSX1/NKX2-5 in a B-cell chronic lymphoproliferative disorder [case report]
- immunohistostaining was positive for Nkx2.5 in 6 of 9 patients with yolk sac tumor (YST), suggesting a certain function of Nkx2.5 in YST
- SUMO1 modification serves as a positive regulator for Nkx2.5 transcriptional activity
- Nkx2-5 function is critical not only during cardiac development in transgenic mice but also in perinatal hearts, by regulating expression of several important gene products involved in conduction and contraction.
- NKX2.5/NKX2.6 mutations are not a common cause of isolated type 1 truncus arteriosus in a small cohort of multiethnic cases.
- Clinical analysis revealed distinct hormonal patterns in thyroid hypoplasia when compared with other variants of thyroid dysgenesis, with genetic abnormalities identified only in few cases in the TSH-R, PAX8, and NKX2.5 genes.
- IN thks study, the NKX2.5 homeodomain has been crystallized in complex with a specific DNA element, the -242 promoter region of atrial natriuretic factor.
- Somatic mutations in NKX2-5 do not represent an important aetiologic pathway in pathologic cardiac development in patients with cardiac septal defects.