The TNNI3 gene encoding cardiac troponin I (cTnI) is located at 19q13.4 in the human chromosomal genome. Human cTnI is a 24 kDa protein consisting of 210 amino acids with isoelectric point (pI) of 9.87. cTnI is exclusively expressed in adult cardiac muscle.

2024年12月25日 · TNNI3 (Troponin I3, Cardiac Type) is a Protein Coding gene. Diseases associated with TNNI3 include Cardiomyopathy, Dilated, 2A and Cardiomyopathy, Familial Hypertrophic, 7. Among its related pathways are Activation of …

The TNNI3 gene provides instructions for making a protein called cardiac troponin I, which is found solely in the heart (cardiac) muscle. Learn about this gene and related health conditions.

2020年9月4日 · Cardiac troponin I (TNNI3) gene mutations account for 3% of hypertrophic cardiomyopathy and carriers have a heterogeneous phenotype, with increased risk of sudden cardiac death (SCD). Only one mutation (p.Arg21Cys) has been reported in the N …

2025年2月8日 · Title: Homozygous TNNI3 frameshift variant in a consanguineous family with lethal infantile dilated cardiomyopathy. Decreased intranuclear cardiac troponin I impairs cardiac autophagy through FOS/ATG5 in ageing hearts.

2024年3月29日 · In this report, we present the case of a patient with a novel TNNI3 heterozygous variant who was diagnosed with nonobstructive HCM and experienced progressive myocardial fibrosis, LV structural...

2025年2月8日 · Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions …

Human genetic variants in TNNI3K are associated with supraventricular arrhythmias, conduction disease, and cardiomyopathy. Furthermore, studies in mice implicate the gene in cardiac hypertrophy, cardiac regeneration, and recovery after ischemia/reperfusion injury.

a novel TNNI3 mutation in a family with recessive disease. Functional studies showed impairment of troponin interactions that could lead to diminished myocardial contractility. TNNI3 is the first recessive gene identified for this condition.

Vertebrate TnI has evolved into three isoforms encoded by three homologous genes: TNNI1 for slow skeletal muscle TnI, TNNI2 for fast skeletal muscle TnI and TNNI3 for cardiac TnI, which are expressed under muscle type-specific and developmental regulations.

2016年1月15日 · Vertebrate TnI has evolved into three isoforms encoded by three homologous genes: TNNI1 for slow skeletal muscle TnI, TNNI2 for fast skeletal muscle TnI and TNNI3 for cardiac TnI, which are expressed under muscle type-specific and developmental regulations.

2023年3月19日 · The TNNI3 gene encodes for the cardiac isoform of troponin I, a pivotal component of the sarcomeric structure of the myocardium. While heterozygous <i>TNNI3</i> missense mutations have long been associated with autosomal dominant hypertrophic and restrictive cardiomyopathies, the role of <i>T</i> …

In the past studies, it is shown that cardiac troponin I (cTnI, encoded by TNNI3), as a cytoplasmic protein, is an inhibitory subunit in troponin complex, and involves in cardiomyocyte diastolic regulation. Here, we assessed a novel role of cTnI as a nucleoprotein.

Northern blot analysis detected TNNI3 expression in 20-week fetal heart, 28-week fetal heart, 9-month postnatal heart, and adult ventricular muscle, but not in adult skeletal muscle.

cTnI is a 24 kD protein encoded by the TNNI3 gene, which is located on chromosome 19q13.4. De novo or inherited TNNI3 variants have thus far been associated with a variety of pathological cardiac phenotypes.

2025年2月8日 · Involved in cardiac muscle contraction and regulation of smooth muscle contraction. Located in sarcomere. Human ortholog(s) of this gene implicated in intrinsic cardiomyopathy (multiple). Orthologous to human TNNI3 (troponin I3, cardiac type). [provided by Alliance of Genome Resources, Feb 2025]

Mutations in the TNNI3 gene can cause familial hypertrophic cardiomyopathy, a condition characterized by thickening (hypertrophy) of the cardiac muscle. TNNI3 gene mutations are found in less than 5 percent of people with this condition.

The cardiac-specific isoform of troponin I (TNNI3) spans eight exons on chromosome 19 and encodes a 210-amino-acid (27–31 kDa) protein [97]. TNNI3 variants in patients with HCM account for ∼2% of disease [75]. Detailed survival analyses have not been performed.

TNNI3 - troponin I3, cardiac type Synonym(s): CMH7, TNNC1, cTNI Previous symbol(s) and name(s): CMD2A, cardiomyopathy, dilated 2A (autosomal recessive), troponin I type 3, troponin I type 3 (cardiac)

2025年2月8日 · Knockout mice lacking cTnI (Tnni3) die of acute heart failure at P18, displaying shortened sarcomeres.