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
|
| gptkbp:location |
gptkb:chromosome_2q35
|
| gptkbp:molecularWeight |
53 kDa
|
| gptkbp:mutationAssociatedWith |
gptkb: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:embryonal_rhabdomyosarcoma
|
| gptkbp:bfsLayer |
6
|
| https://www.w3.org/2000/01/rdf-schema#label |
desmin
|