The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
1/500 - 1/1000. Detects a band of approximately 36 kDa (predicted molecular weight: 36 kDa).
May play an important role in endothelial cell activation. May act as a nuclear transcription factor that negatively regulates the expression of cardiac genes. Induction seems to be correlated with apoptotic cell death in hepatoma cells.
Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells.
Involvement in disease
Defects in ANKRD1 may be a cause of total anomalous pulmonary venous return (TAPVR) [MIM:106700]. TAPVR is a rare congenital heart disease (CHD) in which the pulmonary veins fail to connect to the left atrium during cardiac development, draining instead into either the right atrium or one of its venous tributaries. This disease accounts for 1.5% of all CHDs and has a prevalence of approximately 1 out of 15'000 live births.
Band M et al. The muscle ankyrin repeat proteins are hypoxia-sensitive: in vivo mRNA expression in the hypoxia-tolerant blind subterranean mole rat, Spalax ehrenbergi. J Mol Evol70:1-12 (2010).
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