Antibody type
Monoclonal antibodies
Protein name
Homeobox protein Nkx-2.5
Immunogen
Purified recombinant fragment of human Nkx-2.5 expressed in E. Coli.
Specificity
Nkx-2.5 Monoclonal Antibody detects endogenous levels of Nkx-2.5 protein.
Constitute
Antibody are purified by protein G affinity chromatography. Liquid in PBS containing 0.03% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.
Purification process
Affinity purification
Other name
NKX2-5; CSX; NKX2.5; NKX2E; Homeobox protein Nkx-2.5; Cardiac-specific homeobox; Homeobox protein CSX; Homeobox protein NK-2 homolog E
Background
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. [provided by RefSeq, Oct 2009],
Function
disease:Defects in NKX2-5 are a cause of tetralogy of Fallot (TOF) [MIM:187500]. TOF is a congenital heart anomaly which consists of pulmonary stenosis, ventricular septal defect, dextroposition of the aorta (aorta is on the right side instead of the left) and hypertrophy of the right ventricle. This condition results in a blue baby at birth due to inadequate oxygenation. Surgical correction is emergent.,disease:Defects in NKX2-5 are the cause of atrial septal defect with atrioventricular conduction defects (ASD-AVCD) [MIM:108900]. ASD-AVCD is a congenital heart malformation characterized by atrioventricular conduction defects and incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.,disease:Defects in NKX2-5 are the cause of congenital hypothyroidism non-goitrous type 5 (CHNG5) [MIM:225250]. CHNG5 is a non-autoimmune condition charact
