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 (cardiac) muscle.

2024年12月25日 · TTN (Titin) is a Protein Coding gene. Diseases associated with TTN include Myopathy, Myofibrillar, 9, With Early Respiratory Failure and Congenital Myopathy 5 With Cardiomyopathy . Among its related pathways are Response to elevated platelet cytosolic Ca2+ and Striated muscle contraction pathway .

Titin [5] (/ ˈ t aɪ t ɪ n /; also called connectin) is a protein that in humans is encoded by the TTN gene. [6] [7] The protein, which is over 1 μm in length, [8] functions as a molecular spring that is responsible for the passive elasticity of muscle. It comprises 244 individually folded protein domains connected by unstructured peptide ...

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 are muscle weakness and breathing difficulties. Some affected individuals also develop scoliosis and heart problems.

Gene ID: 7273, updated on 8-Feb-2025. 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.

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, titin, and mutations in the gene are associated with a number of neuromuscular diseases.

2025年2月8日 · 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. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine ...

2023年12月20日 · The Ttn gene, also known as the Titin gene, is the largest gene in the human genome. It encodes a protein called Titin, which is responsible for the assembly and maintenance of sarcomeres in muscle cells.

2025年1月4日 · 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. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine ...

2019年11月28日 · In this article, we review the role of TTN mutations in development of DCM, how differential expression of titin isoforms relate to DCM pathophysiology, and discuss how post-translational modifications of titin can affect cardiomyocyte function.