Preferred Name

Dystrophin

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#C116977

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142799

http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142800

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

Dystrophin

DMD

label

Dystrophin

Legacy Concept Name

Dystrophin

OMIM_Number

300377

Preferred_Name

Dystrophin

prefixIRI

Thesaurus: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 / 医学主题词表 LOOM
http://purl.bioontology.org/ontology/OMIM/300377 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://purl.obolibrary.org/obo/PR_000006537 Protein Ontology / 蛋白质本体 LOOM
http://www.orpha.net/ORDO/Orphanet_121117 Orphanet Rare Disease Ontology / Orphanet罕见病本体 LOOM
http://purl.org/sig/ont/fma/fma62357 Foundational Model of Anatomy / 解剖学基础模型本体 LOOM