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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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Preferred Name | Dystrophin | |
Synonyms |
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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. |
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ID |
http://purl.obolibrary.org/obo/NCIT_C75325 |
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code |
C75325
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Contributing_Source |
CTRP
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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.
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DesignNote |
Dystrophin RNA is differentially spliced, producing a range of different transcripts, encoding a large set of protein isoforms. (Entrez Gene)
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Display_Name |
Dystrophin
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in_subset |
http://purl.obolibrary.org/obo/NCIT_C116977 |
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label |
Dystrophin
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Legacy Concept Name |
Dystrophin
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OMIM_Number |
300377
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Preferred_Name |
Dystrophin
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prefixIRI |
NCIT:C75325
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prefLabel |
Dystrophin
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Semantic_Type |
Amino Acid, Peptide, or Protein
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Swiss_Prot |
P11532
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UMLS_CUI |
C0079259
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subClassOf |
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