Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
adenosine monophosphate deaminase 1
myoadenylate deaminase |
| gptkbp:associatedWith |
myoadenylate deaminase deficiency
|
| gptkbp:encodes |
AMP deaminase 1
|
| gptkbp:Entrez_Gene_ID |
270
ENSG00000152234 |
| gptkbp:expressedIn |
gptkb:skeletal_muscle
|
| gptkbp:function |
catalyzes deamination of AMP to IMP
|
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
464
|
| https://www.w3.org/2000/01/rdf-schema#label |
AMPD1
|
| gptkbp:locatedOnChromosome |
chromosome 1
|
| gptkbp:locusType |
1p13.3
|
| gptkbp:mutationAssociatedWith |
exercise intolerance
|
| gptkbp:OMIM |
102770
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Ampd1
|
| gptkbp:UniProtID |
P23109
|
| gptkbp:bfsParent |
gptkb:AMP_deaminase
gptkb:AMPD |
| gptkbp:bfsLayer |
7
|