| Gene Symbol |
TNNI3
|
| Gene Synonyms |
CMH7 RCM1 cTnI CMD2A TNNC1 CMD1FF |
| Gene Full Name |
troponin I3, cardiac type |
| Gene Summary |
Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized due to COVID-19. [provided by RefSeq, Aug 2020] |
| Alternative Names |
cardiac muscle Cardiac troponin I cardiomyopathy dilated 2A (autosomal recessive) Cardiomyopathy familial hypertrophic 7 included CMD1FF CMD2A CMH7 cTnI Familial hypertrophic cardiomyopathy 7 MGC116817 RCM1 Tn1 Tni TNN I3 TNNC 1 TNNC1 TNNI3 TNNI3_HUMAN Troponin I Troponin I cardiac Troponin I cardiac muscle Troponin I cardiac muscle isoform Troponin I type 3 cardiac troponin I cardiac 3 TroponinI Ttroponin I type 3 (cardiac) |
| Molecular Weight(MW) |
24 kDa |
| Cellular Localization |
cardiac myofibril, cardiac Troponin complex, cytosol, sarcomere, troponin complex. |