The TNNT2 gene is located at 1q32 in the human chromosomal genome, encoding the cardiac muscle isoform of troponin T (cTnT). Human cTnT is an ~36-kDa protein consisting of 297 amino acids including the first methionine with an isoelectric point (pI) of 4.88.

2024年12月25日 · TNNT2 (Troponin T2, Cardiac Type) is a Protein Coding gene. Diseases associated with TNNT2 include Cardiomyopathy, Dilated, 1D and Cardiomyopathy, Familial Hypertrophic, 2. Among its related pathways are Striated muscle …

The TNNT2 gene provides instructions for making a protein called cardiac troponin T, which is found solely in the heart (cardiac) muscle. Learn about this gene and related health conditions.

2011年12月5日 · Hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene (TNNT2) has been associated with a high risk of sudden cardiac death (SCD) and mild left ventricular hypertrophy. However, previous studies are limited by sample size, cross-sectional design, and few data in relatives.

We identified six TNNT2 protein-altering variants in nine probands, all who had early onset, aggressive disease. Additional family members of mutation carriers were then studied when available. Four of the nine probands had DCM without a family history, and five had familial DCM.

Three homologous genes have evolved in vertebrates to encode three muscle type-specific TnT isoforms: TNNT1 for slow skeletal muscle TnT, TNNT2 for cardiac muscle TnT, and TNNT3 for fast skeletal muscle TnT.

2025年2月8日 · Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. [provided by RefSeq, May 2022] Restricted expression toward heart (RPKM 1647.3) See more. Go to reference sequence details. Go to nucleotide: Graphics FASTA GenBank.