Entrez gene ID | | 7137 |
Official gene symbol | | TNNI3 |
Full name | | troponin I type 3 (cardiac) |
Aliases | | ,CMD1FF,CMD2A,CMH7,MGC116817,RCM1,TNNC1,cTnI, |
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). [provided by RefSeq] |
Location | | Chromosome: 19 Locus: 19q13.4 |
Gene position | | 55669100 - 55663135 Map Viewer |
Gene orientation | | minus |
Gene size | | 5966 bp |
Gene sequence |
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OMIM ID | | 191044 |
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