|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Becker_muscular_dystrophy
gptkb:Duchenne_muscular_dystrophy
|
|
gptkbp:clinicalTrialPhase
|
genetic testing
|
|
gptkbp:discoveredBy
|
gptkb:Louis_M._Kunkel
|
|
gptkbp:discoveredIn
|
1986
|
|
gptkbp:encodes
|
gptkb:dystrophin
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000198947
1756
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
cardiac muscle
|
|
gptkbp:fullName
|
gptkb:dystrophin_gene
|
|
gptkbp:function
|
structural stability of muscle fibers
|
|
gptkbp:geneType
|
protein-coding
|
|
gptkbp:HGNC_ID
|
2928
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
Dmd
|
|
gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:length
|
2.4 million base pairs
|
|
gptkbp:locatedOnChromosome
|
X
|
|
gptkbp:mutationAssociatedWith
|
deletion
duplication
point mutation
muscle degeneration
|
|
gptkbp:numberOfExons
|
79
|
|
gptkbp:OMIM
|
300377
|
|
gptkbp:organism
|
gptkb:Homo_sapiens
|
|
gptkbp:orthologInMouse
|
gptkb:Dmd
|
|
gptkbp:product
|
gptkb:dystrophin
|
|
gptkbp:therapeuticArea
|
gene therapy
exon skipping
|
|
gptkbp:UniProtID
|
P11532
|
|
gptkbp:bfsParent
|
gptkb:DMD
|
|
gptkbp:bfsLayer
|
5
|