Aliases for TNNC1 Gene
External Ids for TNNC1 Gene
Previous HGNC Symbols for TNNC1 Gene
Previous GeneCards Identifiers for TNNC1 Gene
Troponin is a central regulatory protein of striated muscle contraction, and together with tropomyosin, is located on the actin filament. Troponin consists of 3 subunits: TnI, which is the inhibitor of actomyosin ATPase; TnT, which contains the binding site for tropomyosin; and TnC, the protein encoded by this gene. The binding of calcium to TnC abolishes the inhibitory action of TnI, thus allowing the interaction of actin with myosin, the hydrolysis of ATP, and the generation of tension. Mutations in this gene are associated with cardiomyopathy dilated type 1Z. [provided by RefSeq, Oct 2008]
GeneCards Summary for TNNC1 Gene
TNNC1 (Troponin C1, Slow Skeletal And Cardiac Type) is a Protein Coding gene. Diseases associated with TNNC1 include Cardiomyopathy, Familial Hypertrophic, 13 and Cardiomyopathy, Dilated, 1Z. Among its related pathways are Dilated cardiomyopathy (DCM) and Cardiac muscle contraction. Gene Ontology (GO) annotations related to this gene include calcium ion binding and actin filament binding. An important paralog of this gene is TNNC2.
UniProtKB/Swiss-Prot Summary for TNNC1 Gene
Troponin is the central regulatory protein of striated muscle contraction. Tn consists of three components: Tn-I which is the inhibitor of actomyosin ATPase, Tn-T which contains the binding site for tropomyosin and Tn-C. The binding of calcium to Tn-C abolishes the inhibitory action of Tn on actin filaments.