TNNC1

troponin C1, slow skeletal and cardiac type

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

From NCBI 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]

From UniProt:

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.

Covered on Genetics Home Reference:

From NCBI Gene:

  • Dilated cardiomyopathy 1Z
  • Familial hypertrophic cardiomyopathy 13

From UniProt:

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. [MIM:611879]

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. [MIM:613243]

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1

Molecular Location: base pairs 52,451,091 to 52,454,041 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p21.1, which is the short (p) arm of chromosome 3 at position 21.1
  • CMD1Z
  • CMH13
  • TN-C
  • TNC
  • TNNC