Gene: TNNC1
Alternate names for this Gene: CMD1Z|CMH13|TN-C|TNC|TNNC
Gene Summary: 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.
Gene is located in Chromosome: 3
Location in Chromosome : 3p21.1
Description of this Gene: troponin C1, slow skeletal and cardiac type
Type of Gene: protein-coding
rs267607123 in
TNNC1 gene and
Cardiomyopathy, Familial Hypertrophic, 13
PMID 19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.
PMID 16302972 2005 Cardiac troponin C-L29Q, related to hypertrophic cardiomyopathy, hinders the transduction of the protein kinase A dependent phosphorylation signal from cardiac troponin I to C.
PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).
PMID 18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.
PMID 11385718 2001 First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy.