LP14657-8
Desmin
Active
Descriptions
An intermediate filament protein found predominantly in smooth, skeletal, and cardiac muscle cells. Localized at the Z line. MW 50,000 to 55,000 is species dependent. Source: National Library of Medicine, MeSH 2006
Desmin is a protein that in humans is encoded by the DES gene.
Desmin is only expressed in vertebrates, however homologous proteins are found in many organisms. It is a 52kD protein that is a subunit of intermediate filaments in skeletal muscle tissue, smooth muscle tissue, and cardiac muscle tissue.
Desmin Related Myopathy (DRM or Desminopathy) is a subgroup of the myofibrillar myopathy diseases and is the result of a mutation in the gene that codes for desmin which prevents it from forming protein filaments, instead forming aggregates of desmin and other proteins throughout the cell. It is also associated with Sarcoma botryoides (rhabdomyosarcoma variant) - a spindle-shaped vaginal carcinoma that affects girls < 4 years of age.
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Source: Wikipedia, Wikipedia
Basic Part Properties
- Part Display Name
- Desmin
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2000-05-04
- Construct for LOINC Short Name
- Desmin
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=LP14657-8
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | 肌间线蛋白 |
| fr-CA | French (Canada) | Desmine |
| et-EE | Estonian (Estonia) | Desmiin |
| es-ES | Spanish (Spain) | Desmina |
| it-IT | Italian (Italy) | Desmina |
| tr-TR | Turkish (Turkey) | Dezmin |
| ru-RU | Russian (Russian Federation) | Десмин |
| nl-NL | Dutch (Netherlands) | desmine |
| fr-BE | French (Belgium) | Desmine |
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