The TTN gene provides instructions for making a very large protein called titin. This protein plays an important role in skeletal muscles, which the body uses for movement, and in heart …

2024年12月25日 · TTN (Titin) is a Protein Coding gene. Diseases associated with TTN include Myopathy, Myofibrillar, 9, With Early Respiratory Failureand Congenital Myopathy 5 With …

2024年3月12日 · Individuals with recessive titinopathy have two disease-causing variants in TTN – one in each copy of their TTN gene. The most common symptoms of recessive titinopathy …

2024年5月9日 · Titinopathies are a group of neuromuscular diseases caused by variants in the titin (TTN) gene. This gene carries instructions for cells to make the large muscular protein, …

This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band.

2020年9月23日 · Truncating variants in the TTN gene (TTNtv) are the commonest cause of heritable dilated cardiomyopathy. This study aimed to study the phenotypes and outcomes of …

Titin is the largest protein in the body encoded by TTN gene. Titin plays keys developmental, mechanical, structural and regulatory roles in skeletal and cardiac muscles.

The 364 exon TTN gene encodes titin (TTN), the largest known protein, which plays key structural, developmental, mechanical, and regulatory roles in cardiac and skeletal muscles.

2025年2月8日 · Gene target information for TTN - titin (human). Find diseases associated with this biological target and compounds tested against it in bioassay experiments.

Truncation variants in the gene TTN encoding titin are the most common cause of familial dilated cardiomyopathy (DCM), with both haploinsufficiency and “poison peptide” implicated as …