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National Cancer Institute Thesaurus
Last uploaded:
February 23, 2024
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| Preferred Name | Dystrophin | |
| Synonyms |
DMD Dystrophin |
|
| Definitions |
Dystrophin (3685 aa, ~427 kDa) is encoded by the human DMD gene. This protein is involved in anchoring the cytoskeleton to the plasma membrane in muscle cells. |
|
| ID |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75325 |
|
| code |
C75325
|
|
| Concept_In_Subset |
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799 |
|
| Contributing_Source |
CTRP
|
|
| DEFINITION |
Dystrophin (3685 aa, ~427 kDa) is encoded by the human DMD gene. This protein is involved in anchoring the cytoskeleton to the plasma membrane in muscle cells.
|
|
| DesignNote |
Dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. (Entrez Gene)
|
|
| Display_Name |
Dystrophin
|
|
| FULL_SYN |
DMD Dystrophin
|
|
| label |
Dystrophin
|
|
| Legacy Concept Name |
Dystrophin
|
|
| OMIM_Number |
300377
|
|
| Preferred_Name |
Dystrophin
|
|
| prefixIRI |
Thesaurus:C75325
|
|
| Semantic_Type |
Amino Acid, Peptide, or Protein
|
|
| Swiss_Prot |
P11532
|
|
| UMLS_CUI |
C0079259
|
|
| subClassOf |
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