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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 …

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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.

该基因编码肌钙蛋白 T 的心脏亚型。 编码的蛋白质是肌钙蛋白复合物的原肌球蛋白结合亚基，位于横纹肌的细丝上，调节肌肉收缩以响应细胞内钙离子浓度的变化。 该基因的突变与家族性肥厚性心肌病以及扩张型心肌病有关。 [RefSeq 提供，2022 年 5 月] This gene encodes the cardiac isoform of troponin T.

We recently undertook bidirectional resequencing of TNNT2, the cardiac troponin T gene, in 313 probands with DCM. 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.

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.

Three troponin T genes have been described on the basis of molecular cloning in humans and other vertebrates. These are expressed in a tissue-specific manner and encode the troponin T isoforms expressed in cardiac muscle, slow skeletal muscle (TNNT1), and fast skeletal muscle (TNNT3; 600692).

目的 既往的研究提示TNNT2基因突变导致肥厚型心肌病（HCM）患者容易发生心源性猝死（SCD），本研究旨在明确中国HCM患者TNNT2基因突变谱及TNNT2基因突变阳性患者的临床表型及预后特点。 方法 采用全外显子测序及panel二代测序对1 418例HCM患者进行致病基因筛查，分析携带TNNT2基因突变患者的临床表型；并结合长期随访结果，分析其预后特点。 结果...