TNNC1 est un gène codé par le symbole TNNC1. Il est également connu sous le nom de: Troponin C, slow skeletal and cardiac muscles; TN-C; TNNC. TNNC1 a une masse de 18.4kDa, une longueur d'acide aminé de 161, et est impliqué dans les maladies: Cardiomyopathy, dilated 1Z; Cardiomyopathy, familial hypertrophic 13.
Nous proposons 7 des anticorps contre TNNC1, élevé dans Lapin et Souris, qui sont appropriés pour le WB, IHC, ICC/IF et ChIP avec des échantillons dérivés de Humain, Souris et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.
Résumé Entrez
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z.
Implication dans la maladie
Cardiomyopathy, dilated 1Z: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Cardiomyopathy, familial hypertrophic 13: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.
Similitudes de séquence
Belongs to the troponin C family.
