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TNNC1

TNNC1

The information on this page was automatically extracted from online scientific databases.

What is the official name of the TNNC1 gene?

The official name of this gene is “troponin C type 1 (slow).”

TNNC1 is the gene's official symbol. The TNNC1 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the TNNC1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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]

From UniProtThis link leads to a site outside Genetics Home Reference.:

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.

How are changes in the TNNC1 gene related to health conditions?

Genetics Home Reference provides information about familial dilated cardiomyopathy, which is associated with changes in the TNNC1 gene.
UniProtThis link leads to a site outside Genetics Home Reference. provides the following information about the TNNC1 gene's known or predicted involvement in human disease.

Cardiomyopathy, dilated 1Z (CMD1Z): A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by mutations affecting the gene represented in this entry.

Cardiomyopathy, familial hypertrophic 13 (CMH13): A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TNNC1 gene.
  • Dilated cardiomyopathy 1Z
  • Familial hypertrophic cardiomyopathy 13
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the TNNC1 gene and its association with health conditions.
OMIM
Number
Title

Where is the TNNC1 gene located?

Cytogenetic Location: 3p21.1

Molecular Location on chromosome 3: base pairs 52,451,090 to 52,454,040

The TNNC1 gene is located on the short (p) arm of chromosome 3 at position 21.1.

The TNNC1 gene is located on the short (p) arm of chromosome 3 at position 21.1.

More precisely, the TNNC1 gene is located from base pair 52,451,090 to base pair 52,454,040 on chromosome 3.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about TNNC1?

You and your healthcare professional may find the following resources about TNNC1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TNNC1 gene or gene products?

  • CMD1Z
  • CMH13
  • TNC
  • TN-C
  • TNNC

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TNNC1?

actin ; arrhythmia ; ATP ; benign ; calcium ; cardiac ; cardiomyopathy ; contraction ; dilated ; dilation ; dyspnea ; familial ; gene ; heart failure ; hereditary ; hydrolysis ; hypertrophic ; hypertrophy ; intrafamilial variability ; myosin ; palpitations ; protein ; septum ; syncope

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Published: March 23, 2015