Statements (26)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:protein
|
gptkbp:affiliatedWith |
intermediate filament family
|
gptkbp:associatedWith |
gptkb:desmin-related_myopathy
|
gptkbp:discoveredBy |
gptkb:Lazarides_and_Hubbard
|
gptkbp:discoveredIn |
1976
|
gptkbp:encodedBy |
gptkb:DES_gene
|
gptkbp:expressedIn |
gptkb:skeletal_muscle
cardiac muscle smooth muscle |
gptkbp:form |
filaments
|
gptkbp:foundIn |
gptkb:skeletal_muscle
|
gptkbp:function |
structural support in muscle cells
|
https://www.w3.org/2000/01/rdf-schema#label |
desmin
|
gptkbp:location |
gptkb:chromosome_2q35
|
gptkbp:molecularWeight |
53 kDa
|
gptkbp:mutationAssociatedWith |
cardiomyopathy
skeletal myopathy |
gptkbp:OMIM |
125660
|
gptkbp:PDB |
3L9G
|
gptkbp:role |
muscle contraction
cell integrity |
gptkbp:stainingUsedFor |
muscle pathology diagnosis
|
gptkbp:structure |
coiled-coil
|
gptkbp:UniProtID |
P17661
|
gptkbp:bfsParent |
gptkb:rhabdomyosarcoma
|
gptkbp:bfsLayer |
5
|