Duchenne muscular dystrophy gene
GPTKB entity
Statements (31)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:DMD_gene
gptkb:dystrophin_gene |
| gptkbp:associatedWith |
gptkb:Becker_muscular_dystrophy
gptkb:Duchenne_muscular_dystrophy |
| 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
|
| gptkbp:function |
maintains muscle fiber integrity
|
| gptkbp:HGNC_ID |
2928
|
| https://www.w3.org/2000/01/rdf-schema#label |
Duchenne muscular dystrophy gene
|
| gptkbp:inheritance |
X-linked recessive
|
| gptkbp:length |
2,220,223 bp
|
| gptkbp:locatedOnChromosome |
gptkb:Xp21.2
X |
| gptkbp:mutationAssociatedWith |
deletion
duplication point mutation |
| gptkbp:numberOfExons |
79
|
| gptkbp:OMIM |
300377
|
| gptkbp:orthologInMouse |
gptkb:Dmd
|
| gptkbp:orthologInZebrafish |
gptkb:dmd
|
| gptkbp:product |
dystrophin protein
|
| gptkbp:referenceGenome |
gptkb:GRCh38
|
| gptkbp:symbol |
gptkb:DMD
|
| gptkbp:UniProtID |
P11532
|
| gptkbp:bfsParent |
gptkb:DMD_gene
|
| gptkbp:bfsLayer |
7
|