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 ,