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 |