Desmin - Wikipedia
Desmin is a protein that in humans is encoded by the DES gene. [5][6] Desmin is a muscle-specific, type III intermediate filament [7] that integrates the sarcolemma, Z disk, and nuclear membrane in sarcomeres and regulates sarcomere architecture. [8][9]
Desmin - MyPathologyReport.ca
Desmin is a protein made by muscle cells. Non-cancerous and cancerous tumours made up of muscle cells also produce desmin.
DES gene: MedlinePlus Genetics
The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle). Within muscle fibers, desmin proteins are important to help maintain the structure of sarcomeres, which are necessary for muscles to tense (contract).
DES Gene - Desmin
2024年10月1日 · DES (Desmin) is a Protein Coding gene. Diseases associated with DES include Myopathy, Myofibrillar, 1 and Scapuloperoneal Syndrome, Neurogenic, Kaeser Type. Among its related pathways are Striated muscle contraction pathway and Cardiac conduction.
Desminopathies: pathology and mechanisms | Acta …
2012年11月11日 · The intermediate filament protein desmin is an essential component of the extra-sarcomeric cytoskeleton in muscle cells. This three-dimensional filamentous framework exerts central roles in the structural and functional alignment and anchorage of myofibrils, the positioning of cell organelles and signaling events.
Entry - *125660 - DESMIN; DES - OMIM
Desmin is the muscle-specific member of the intermediate filament (IF) protein family. It is one of the earliest myogenic markers, both in heart and somites, and is expressed in satellite stem cells and replicating myoblasts.
Desmin in muscle and associated diseases: beyond the structural ...
2014年10月31日 · Desmin is a muscle-specific type III intermediate filament essential for proper muscular structure and function. In human, mutations affecting desmin expression or promoting its aggregation lead to skeletal (desmin-related myopathies), or cardiac (desmin-related cardiomyopathy) phenotypes, or both.
The DES gene provides instructions for making a protein called desmin. Desmin is found in heart (cardiac) muscle and muscles used for movement (skeletal muscle).
The Role of Desmin Variants In Familial Atrial Fibrillation
The important function of desmin in the cardiac conduction system is related to the distinctive property of desmin to form intra- and intercellular networks by connecting and anchoring various cytoskeletal structures and organelles.
Frontiers | Desmin common mutation is associated with multi …
2015年6月4日 · Desmin (DES) is a major muscle scaffolding protein that also functions to anchor mitochondria. Pathogenic DES mutations, however, have not previously been recognized as a cause of multi-systemic mitochondrial disease.