Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:X-linked_myotubular_myopathy
|
| gptkbp:discoveredBy |
Laporte et al.
|
| gptkbp:discoveredIn |
1996
|
| gptkbp:encodes |
gptkb:myotubularin
|
| gptkbp:Entrez_Gene_ID |
4534
ENSG00000198815 |
| gptkbp:function |
phosphatidylinositol-3-phosphatase activity
|
| gptkbp:HGNC_ID |
7530
|
| https://www.w3.org/2000/01/rdf-schema#label |
Mtm1
|
| gptkbp:locatedOnChromosome |
gptkb:Xq28
|
| gptkbp:mutationAssociatedWith |
respiratory failure
hypotonia muscle weakness |
| gptkbp:OMIM |
300415
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologIn |
gptkb:Mus_musculus
gptkb:Rattus_norvegicus |
| gptkbp:proteinFamily |
gptkb:myotubularin_family
|
| gptkbp:UniProtID |
O43739
|
| gptkbp:bfsParent |
gptkb:MTM1
|
| gptkbp:bfsLayer |
7
|