rs1060502611
This variant is located in the TNNC1 gene.
▶ClinVar annotation
Hypertrophic cardiomyopathy 13;Dilated cardiomyopathy 1Z
View on ClinVar →About TNNC1
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]
View all TNNC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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