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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).
Gene Name: | troponin I type 3 (cardiac) |
Synonyms: | TNNI3, CTnI, CMD1FF, CMD2A, RCM1, Troponin I, cardiac, Troponin I, cardiac muscle, Troponin I type 3 (cardiac), Cardiac troponin I, CMH7 |
Target Sequences: | NM_000363 NP_000354.4 P19429 |
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