|Application ||WB, E|
|Other Accession||NP_001159648, 1482, 18091 (mouse), 114109 (rat)|
|Reactivity||Human, Mouse, Rat|
|Calculated MW||34918 Da|
|Other Names||Homeobox protein Nkx-2.5, Cardiac-specific homeobox, Homeobox protein CSX, Homeobox protein NK-2 homolog E, NKX2-5, CSX, NKX2.5, NKX2E|
|Format||0.5 mg IgG/ml in Tris saline (20mM Tris pH7.3, 150mM NaCl), 0.02% sodium azide, with 0.5% bovine serum albumin|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C in small aliquots to prevent freeze-thaw cycles.|
|Precautions||Goat Anti-CSX1 / NKX2-5 Antibody is for research use only and not for use in diagnostic or therapeutic procedures.|
|Synonyms||CSX, NKX2.5, NKX2E|
|Function||Implicated in commitment to and/or differentiation of the myocardial lineage. Acts as a transcriptional activator of ANF in cooperation with GATA4 (By similarity). It is transcriptionally controlled by PBX1 and acts as a transcriptional repressor of CDKN2B (By similarity). It is required for spleen development.|
|Tissue Location||Expressed only in the heart.|
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Provided below are standard protocols that you may find useful for product applications.
This gene encodes a homeobox-containing transcription factor. This transcription factor functions in heart formation and development. Mutations in this gene cause atrial septal defect with atrioventricular conduction defect, and also tetralogy of Fallot, which are both heart malformation diseases. Mutations in this gene can also cause congenital hypothyroidism non-goitrous type 5, a non-autoimmune condition. Alternative splicing results in multiple transcript variants.
New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle. De Luca A, et al. Clin Genet, 2010 Aug 2. PMID 20807224.
Variation at the NFATC2 Locus Increases the Risk of Thiazolinedinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study. Bailey SD, et al. Diabetes Care, 2010 Jul 13. PMID 20628086.
A whole genome association study of mother-to-child transmission of HIV in Malawi. Joubert BR, et al. Genome Med, 2010 Mar 1. PMID 20487506.
Mutational spectrum in the cardiac transcription factor gene NKX2.5 (CSX) associated with congenital heart disease. Stallmeyer B, et al. Clin Genet, 2010 Apr 20. PMID 20456451.
Transcription factor mutations and congenital hypothyroidism: systematic genetic screening of a population-based cohort of Japanese patients. Narumi S, et al. J Clin Endocrinol Metab, 2010 Apr. PMID 20157192.
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