Dystrophin - CISMeF

Preferred Label : Dystrophin;

NCIt synonyms : DMD;

NCIt 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.;

NCIt note : Dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. (Entrez Gene);

Details

Origin ID

C75325;

UMLS CUI

C1437024;

Currated CISMeF NLP mapping
- Dystrophin [FMA entity]
- dystrophin [MeSH Descriptor]
- dystrophin [MeSH concept]
OMIM relation
- Dystrophin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Biologically Active Substance [UMLS semantic type]
UMLS correspondences (same concept)
- DMD protein, human [MeSH Supplementary Concept]
- DMD protein, human [MeSH concept]
- Dystrophin [FMA entity]
- dystrophin [MeSH concept]
- dystrophin [MeSH Descriptor]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_encodes_gene_product
- Cytoskeletal Gene [NCIt concept]
- DMD Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]
gene_product_has_associated_anatomy
- Cytoskeleton [NCIt concept]
gene_product_has_organism_source
- Human [NCIt concept]
gene_product_plays_role_in_biological_process
- Cell Movement Process [NCIt concept]
- Cytoskeletal Process [NCIt concept]
- Organogenesis [NCIt concept]
- Regulation of Cell Shape [NCIt concept]

Keyword's position in hierarchy(ies) :

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