Desmin
| Desmin | ||
|---|---|---|
| Properties of human protein | ||
| Mass / length primary structure | 470 aa; 53.5 kDa | |
| Secondary to quaternary structure | Homopolymer | |
| Identifier | ||
| Gene name | OF | |
| External IDs | ||
| Occurrence | ||
| Parent taxon | Chordates | |
| Orthologue | ||
| human | mouse | |
| Entrez | 1674 | 13346 |
| Ensemble | ENSG00000175084 | ENSMUSG00000026208 |
| UniProt | P17661 | Q3V1K9 |
| Refseq (mRNA) | NM_001927 | NM_010043 |
| Refseq (protein) | NP_001918 | NP_034173 |
| Gene locus | Chr 2: 219.99 - 220 Mb | Chr 1: 75.24 - 75.25 Mb |
| PubMed search | 1674 |
13346
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Desmin (old name skeletin ) is a type 3 intermediate filament and thus an element of the cytoskeleton . The desmin filaments have a diameter of 8-11 nm and a species-dependent molecular mass of 50,000 to 55,000 Daltons .
Desmin occurs in the skeletal , heart and smooth muscles . In the cytoplasm of the muscle fibers of the striated muscles , it connects the myofibrils in bundles and the so-called Z-disks of the muscle fibers. The connection between desmin and the Z-disks is made by a specific intermediate filament-associated protein , synemin . Desmin binds to Syncoilin .
Clinical significance
In case of breakdown of the authorities responsible for Desminsynthese gene specific muscular diseases (can myopathies ) occur. It is known that mutations in the DES gene lead to various cardiomyopathies, such as B. arrhythmogenic right ventricular cardiomyopathy (ARVC) or restrictive cardiomyopathy. Many desmin mutations lead to a dominant formation of aggregates in the cytoplasm.
Antibodies against desmin are used in pathology to reliably differentiate certain tumors ( rhabdomyosarcoma , leiomyosarcoma ) from other soft tissue tumors.
Individual evidence
- ↑ Denise Paulin and Zhenlin Li: Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle . Experimental Cell Research 301 (2004), pp. 1-7.
- ↑ Andreas Brodehl, Seyed Ahmad Pour Hakimi, Caroline Stanasiuk, Sandra Ratnavadivel, Doris Hendig: Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect . In: Genes . tape 10 , no. 11 , November 11, 2019, ISSN 2073-4425 , p. 918 , doi : 10.3390 / genes10110918 ( mdpi.com [accessed November 23, 2019]).
- ↑ B. Klauke et al .: De novo desmin mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy. In: Hum Mol Genet . 2010 Dec 1; 19 (23): 4595-607.
- ^ A. Brodehl et al .: Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants. In: J Biol Chem . 287 (19): 16047-57. doi : 10.1074 / jbc.M111.313841 .