ANKRD1 est un gène codé par le symbole ANKRD1. D'autres noms incluent: Ankyrin repeat domain-containing protein 1; Cardiac ankyrin repeat protein; Cytokine-inducible gene C-193 protein; Cytokine-inducible nuclear protein; C193; CARP; HA1A2. ANKRD1 a une masse de 36.25kDa, une longueur d'acide aminé de 319, et est impliqué dans Total anomalous pulmonary venous return.
Nous proposons 8 des anticorps contre ANKRD1, élevé dans Lapin, qui sont appropriés pour le WB, IHC et ELISA avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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.
Résumé Entrez
The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system.
Spécificité tissulaire
Mainly expressed in activated vascular endothelial cells. To a lower extent, also expressed in hepatoma cells.
Implication dans la maladie
Total anomalous pulmonary venous return: 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.
Localisation cellulaire
Nucleus.
