NP_001918.3
[Other Products]
NCBI GenBank Nucleotide #
|
[Other Products]
UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
53,536 Da
NCBI Official Full Name
desmin
NCBI Official Synonym Full Names
desmin
NCBI Protein Information
desmin; mutant desmin p.K241E; intermediate filament protein
UniProt Protein Name
Desmin
UniProt Entry Name
DESM_HUMAN
NCBI Summary for Des
This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]
UniProt Comments for Des
desmin: a class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies.
Protein type: Cytoskeletal; Motility/polarity/chemotaxis
Chromosomal Location of Human Ortholog: 2q35
Cellular Component: intermediate filament; fascia adherens; cytosol; neuromuscular junction; Z disc; sarcolemma
Molecular Function: identical protein binding; protein binding; structural constituent of cytoskeleton; cytoskeletal protein binding
Biological Process: muscle contraction; cytoskeleton organization and biogenesis; regulation of heart contraction; muscle filament sliding
Disease: Cardiomyopathy, Dilated, 1i; Scapuloperoneal Syndrome, Neurogenic, Kaeser Type; Myopathy, Myofibrillar, 1; Muscular Dystrophy, Limb-girdle, Type 2r
Precautions
All of MyBioSource's Products are for scientific laboratory research purposes and are not for diagnostic, therapeutics, prophylactic or in vivo use. Through your purchase, you expressly represent and warrant to MyBioSource that you will properly test and use any Products purchased from MyBioSource in accordance with industry standards. MyBioSource and its authorized distributors reserve the right to refuse to process any order where we reasonably believe that the intended use will fall outside of our acceptable guidelines.
Disclaimer
While every efforts were made to ensure the accuracy of the information provided in this datasheet, MyBioSource will not be liable for any omissions or errors contained herein. MyBioSource reserves the right to make changes to this datasheet at any time without prior notice. It is the responsibility of the customer to report product performance issues to MyBioSource within 30 days of receipt of the product. Please visit our Terms & Conditions page for more information.
Pathways associated with Des elisa kit
Diseases associated with Des elisa kit
Organs/Tissues associated with Des elisa kit
|