Gene Symbol | TNNI3 |
Entrez Gene ID | 7137 |
Full Name | troponin I3, cardiac type |
Synonyms | CMD1FF,CMD2A,CMH7,RCM1,TNNC1,cTnI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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). [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Cardiomyopathy, hypertrophic, 7, 613690 (3); Cardiomyopathy, familial restrictive, 1, 115210 (3); ?Cardiomyopathy, dilated, 2A, 611880 (3); Cardiomyopathy, dilated, 1FF, 613286 (3) |