Aliases for TNNI3 Gene
External Ids for TNNI3 Gene
Previous HGNC Symbols for TNNI3 Gene
Previous GeneCards Identifiers for TNNI3 Gene
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]
GeneCards Summary for TNNI3 Gene
TNNI3 (Troponin I3, Cardiac Type) is a Protein Coding gene. Diseases associated with TNNI3 include Cardiomyopathy, Dilated, 2A and Cardiomyopathy, Familial Hypertrophic, 7. Among its related pathways are Signal transduction_PKA signaling and Activation of cAMP-Dependent PKA. Gene Ontology (GO) annotations related to this gene include protein kinase binding and protein domain specific binding. An important paralog of this gene is TNNI1.
UniProtKB/Swiss-Prot Summary for TNNI3 Gene
Troponin I is the inhibitory subunit of troponin, the thin filament regulatory complex which confers calcium-sensitivity to striated muscle actomyosin ATPase activity.