|Other Names||Homeobox protein Nkx-25, Cardiac-specific homeobox, Homeobox protein CSX, Homeobox protein NK-2 homolog E, NKX2-5, CSX, NKX25, NKX2E|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. 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). Binds to the core DNA motif of NPPA promoter (PubMed:22849347, PubMed:26926761). 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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This gene encodes a homeobox-containing transcriptionfactor. This transcription factor functions in heart formation anddevelopment. Mutations in this gene cause atrial septal defect withatrioventricular conduction defect, and also tetralogy of Fallot,which are both heart malformation diseases. Mutations in this genecan also cause congenital hypothyroidism non-goitrous type 5, anon-autoimmune condition. Alternative splicing results in multipletranscript variants.
Bailey, S.D., et al. Diabetes Care 33(10):2250-2253(2010)De Luca, A., et al. Clin. Genet. (2010) In press :Stallmeyer, B., et al. Clin. Genet. (2010) In press :Narumi, S., et al. J. Clin. Endocrinol. Metab. 95(4):1981-1985(2010)Joubert, B.R., et al. Genome Med 2 (3), 17 (2010) :
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