2025年3月30日 · Complete information for TTN gene (Protein Coding), Titin, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene …

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 …

2023年12月20日 · The function of the Ttn gene is to produce the protein titin, which is an essential component of muscle cells. Titin provides structural support and elasticity to …

Suggest a potential biological role for some TTN missense variants in dilated cardiomyopathy. Data suggest that titin functions as an integrated protein chain where functionalities emerge …

Titin-truncating variants (TTNtv) commonly cause dilated cardiomyopathy (DCM). TTNtv are also encountered in ∼1% of the general population, where they may be silent, perhaps reflecting …

2022年11月10日 · The giant sarcomere protein titin is a major determinant of cardiomyocyte stiffness and contributor to cardiac strain sensing. Titin-based forces are highly regulated in …

2024年1月16日 · Heterozygous TTN truncation variants (TTN tvs) are the most prevalent genetic lesion identified in dilated cardiomyopathy (DCM), a disorder associated with cardiac chamber …

2019年11月28日 · This review discusses the role of titin in myocardial function and in disease. In particular, we discuss TTN gene structure, the complexity of genotype-phenotype correlation …

Titin (TTN) is the largest protein in humans, and TTN truncating variants (TTNtv; SNPs that lead to premature stop codons, indels that cause frameshifts in the coding sequence and variants …

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 …