troponin T2, cardiac type

Normal function

The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle. Cardiac troponin T is one of three proteins that make up the troponin protein complex in cardiac muscle cells. The troponin complex is part of a structure called the sarcomere, which is the basic unit of muscle contraction. Sarcomeres are made up of thick and thin filaments. The overlapping thick and thin filaments attach (bind) to each other and release, which allows the filaments to move relative to one another so that muscles can contract. The troponin complex, along with calcium, helps regulate contraction of cardiac muscle.

For the heart to beat normally, cardiac muscle must contract and relax in a coordinated way. Cardiac troponin T helps coordinate contraction of the heart muscle. When calcium levels are low, the troponin complex binds to the thin filament in sarcomeres, which blocks the interaction between the thick and thin filaments that is needed for muscle contraction. An increase in calcium levels causes structural changes in the troponin complex, which allows the thick and thin filaments to interact, leading to contraction of the heart muscle.

Conditions referring to this gene or chromosome

• Familial restrictive cardiomyopathy

• Nonsyndromic hypertrophic cardiomyopathy

• Nonsyndromic dilated cardiomyopathy

• Left ventricular noncompaction

Other names

cardiac muscle troponin T

cTnT

LVNC6

RCM3

TNNT2_HUMAN

TnTC

troponin T type 2 (cardiac)

troponin T, cardiac muscle

troponin T2, cardiac