Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
myophosphorylase
|
| gptkbp:associatedWith |
gptkb:McArdle_disease
|
| gptkbp:discoveredBy |
biochemical genetics studies
|
| gptkbp:encodes |
muscle glycogen phosphorylase
|
| gptkbp:Entrez_Gene_ID |
5837
|
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:firstDescribed |
1959
|
| gptkbp:function |
glycogen breakdown
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
9320
|
| https://www.w3.org/2000/01/rdf-schema#label |
PYGM gene
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:locatedOnChromosome |
11q13.1
|
| gptkbp:mutationAssociatedWith |
nonsense
deletion insertion missense splice-site glycogen storage disease type V |
| gptkbp:numberOfExons |
20
|
| gptkbp:OMIM |
608455
|
| gptkbp:orthologInMouse |
Pygm
|
| gptkbp:pathway |
carbohydrate metabolism
glycogenolysis |
| gptkbp:product |
phosphorylase, glycogen, muscle, a
phosphorylase, glycogen, muscle, b |
| gptkbp:UniProtID |
P11217
|
| gptkbp:bfsParent |
gptkb:Glycogen_Storage_Disease_Type_V
|
| gptkbp:bfsLayer |
7
|