|
gptkbp:instanceOf
|
gptkb:gene
|
|
gptkbp:alias
|
gptkb:dystrophin_gene
gptkb:Duchenne_muscular_dystrophy_gene
gptkb:Xp21_gene
|
|
gptkbp:alternativeSplicing
|
yes
|
|
gptkbp:associatedWith
|
gptkb:Becker_muscular_dystrophy
gptkb:Duchenne_muscular_dystrophy
|
|
gptkbp:clinicalTrialPhase
|
gptkb:MLPA_(Multiplex_Ligation-dependent_Probe_Amplification)
muscle biopsy
genetic sequencing
|
|
gptkbp:encodes
|
dystrophin protein
|
|
gptkbp:Entrez_Gene_ID
|
gptkb:ENSG00000198947
1756
GC06M000384
|
|
gptkbp:expressedIn
|
gptkb:skeletal_muscle
brain
cardiac muscle
|
|
gptkbp:firstDescribed
|
1986
|
|
gptkbp:fullName
|
gptkb:dystrophin_gene
|
|
gptkbp:function
|
structural stability of muscle fibers
|
|
gptkbp:HGNC_ID
|
2928
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
DMD gene
|
|
gptkbp:inheritance
|
X-linked recessive
|
|
gptkbp:interactsWith
|
gptkb:dystrobrevin
gptkb:dystroglycan_complex
gptkb:sarcoglycan_complex
gptkb:syntrophins
|
|
gptkbp:length
|
2.4 million base pairs
|
|
gptkbp:locatedOnChromosome
|
gptkb:Xp21.2
gptkb:X_chromosome
|
|
gptkbp:molecularWeightOfProtein
|
427 kDa
|
|
gptkbp:mutationAssociatedWith
|
cognitive impairment
cardiomyopathy
muscle degeneration
deletions
duplications
point mutations
|
|
gptkbp:numberOfExons
|
79
|
|
gptkbp:OMIM
|
300377
|
|
gptkbp:orthologInMouse
|
gptkb:Dmd
|
|
gptkbp:pathway
|
muscle contraction
cell membrane integrity
|
|
gptkbp:product
|
gptkb:dystrophin
|
|
gptkbp:proteinDomains
|
C-terminal domain
actin-binding domain
cysteine-rich domain
rod domain
|
|
gptkbp:proteinFamily
|
gptkb:dystrophin_family
|
|
gptkbp:RefSeq
|
NM_004006
|
|
gptkbp:UniProtID
|
P11532
|
|
gptkbp:bfsParent
|
gptkb:Becker_muscular_dystrophy
gptkb:Duchenne_muscular_dystrophy
gptkb:dystrophin
|
|
gptkbp:bfsLayer
|
6
|