Dystonin - CISMeF

Preferred Label : Dystonin;

NCIt synonyms : Trabeculin-Beta; Hemidesmosomal Plaque Protein; 230 kDa Bullous Pemphigoid Antigen; Bullous Pemphigoid Antigen 1; Dystonia Musculorum Protein; Bullous Pemphigoid Antigen 1, 230/240kDa; 230/240 kDa Bullous Pemphigoid Antigen; Bullous Pemphigoid Antigen; DST;

NCIt related terms : BASEMENT MEMBRANE ZONE BP230; BMZ BP230; BP230; BPAG1;

NCIt definition : Dystonin (7570 aa, 860 kDa) is encoded by the human DST gene. This protein plays a structural role in cytoskeleton networks.;

Alternative definition : CDISC: An antigen encoded by the DST gene and promotes cytoskeleton networking. It can be considered as an autoantigen and is commonly associated with the autoimmune disease bullous pemphigoid.;

Details

Origin ID

C104891;

UMLS CUI

C1437025;

CISMeF manual mappings
- Dystonin [MeSH Descriptor]
OMIM relation
- Dystonin [OMIM gene]
Semantic type(s)
- Amino Acid, Peptide, or Protein [UMLS semantic type]
- Immunologic Factor [UMLS semantic type]
UMLS correspondences (same concept)
- DST protein, human [MeSH Supplementary Concept]
- DST protein, human [MeSH concept]
- Dystonin [MeSH Descriptor]
concept_is_in_subset
- CDISC SDTM Binding Agent for Immunogenicity Tests Terminology [NCIt concept]
- CDISC SDTM Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- Clinical Data Interchange Standards Consortium Terminology [NCIt concept]
gene_encodes_gene_product
- DST Gene [NCIt concept]
- Structural Protein Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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