TNNC1 ist ein Gen, das durch das Symbol TNNC1 kodiert wird. Es ist auch bekannt als: Troponin C, slow skeletal and cardiac muscles; TN-C; TNNC. TNNC1 hat eine Masse von 18.4kDa, eine Aminosäurelänge von 161, und ist an folgenden Krankheiten beteiligt: Cardiomyopathy, dilated 1Z; Cardiomyopathy, familial hypertrophic 13.
Wir bieten 7 antikörper gegen TNNC1, aufgewachsen in Kaninchen und Maus, welche geeignet sind für WB, IHC, ICC/IF and ChIP mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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.
Entrez Zusammenfassung
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.
Rolle bei Krankheiten
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.
Sequenzähnlichkeiten
Belongs to the troponin C family.
