TNNI3

Troponin I, cardiac muscle ;
Cardiac troponin I ;

disease:Defects in TNNI3 are the cause of cardiomyopathy dilated type 2A (CMD2A) [MIM:611880]. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.,disease:Defects in TNNI3 are the cause of cardiomyopathy familial hypertrophic type 7 (CMH7) [MIM:191044]. Familial hypertrophic cardiomyopathy is 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.,disease:Defects in TNNI3 are the cause of cardiomyopathy familial restrictive type 1 (RCM1) [MIM:115210]. RCM1 is an heart muscle disorder characterized by impaired filling of the ventricles with reduced diastolic volume, in the presence of normal or near normal wall thickness and systolic function.,function:Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.,similarity:Belongs to the troponin I family.,subunit:Binds to actin and tropomyosin. Interacts with TRIM63.,

blood vessel development, vasculogenesis, vasculature development, neurological system process involved in regulation of systemic arterial blood pressure, regulation of systemic arterial blood pressure by ischemic conditions,heart morphogenesis, muscle system process, circulatory system process, heart process, regulation of systemic arterial blood pressure, cellular ion homeostasis, cellular calcium ion homeostasis, cellular metal ion homeostasis,muscle contraction, regulation of muscle contraction, regulation of smooth muscle contraction, striated muscle contraction, heart development, muscle organ development, blood circulation, regulation of blood pressure, striated muscle tissue development, cellular homeostasis, cellular cation homeostasis, cellular di-, tri-valent inorganic cation homeostasis, negative regulation of ATPase activity, homeostatic process, negative regulation of catalytic activity,regulation of ATPase activity, regulation of system process, negative regulation of molecular function, blood vessel morphogenesis, tissue morphogenesis, cardiac muscle tissue development, chemical homeostasis, ion homeostasis,neurological system process, regulation of hydrolase activity, negative regulation of hydrolase activity, cardiac muscle tissue morphogenesis, ventricular cardiac muscle morphogenesis, metal ion homeostasis, di-, tri-valent inorganic cation homeostasis, calcium ion homeostasis, cation homeostasis, cellular chemical homeostasis, heart contraction,cardiac muscle contraction, muscle tissue morphogenesis, muscle tissue development,