
TNNI3 - Wikipedia
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.
TNNI3 Gene - GeneCards | TNNI3 Protein | TNNI3 Antibody
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 …
TNNI3 gene - MedlinePlus
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.
TNNI3 troponin I3, cardiac type [ Homo sapiens (human) ]
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.
Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 …
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...
TNNI1, TNNI2 and TNNI3: Evolution, regulation, and protein …
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.
TNNI3 troponin I3, cardiac type - NIH Genetic Testing Registry …
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 …
TNNI1, TNNI2 and TNNI3: Evolution, Regulation, and Protein …
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.
Intranuclear cardiac troponin I plays a functional role in regulating
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.
Homozygous TNNI3 Mutations and Severe Early Onset Dilated ...
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.
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