National Cancer Institute Thesaurus

Last uploaded: February 21, 2019
Preferred Name

Dystrophin

ID

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C75325

code

C75325

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)

label

Dystrophin

Legacy_Concept_Name

Dystrophin

OMIM_Number

300377

Preferred_Name

Dystrophin

prefixIRI

C75325

prefLabel

Dystrophin

Semantic_Type

Amino Acid, Peptide, or Protein

Swiss_Prot

P11532

UMLS_CUI

C0079259

subClassOf

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16492

Delete Subject Author Type Created
No notes to display
Create New Mapping

Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D016189 Medical Subject Headings LOOM
http://purl.bioontology.org/ontology/OMIM/300377 Online Mendelian Inheritance in Man LOOM
http://purl.obolibrary.org/obo/FMA_62357 Foundational Model of Anatomy LOOM
http://purl.obolibrary.org/obo/PR_000006537 Protein Ontology LOOM