Statements (19)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:protein
gptkb:gene |
| gptkbp:alternativeName |
gptkb:SBF2
|
| gptkbp:associatedWith |
Charcot-Marie-Tooth disease type 4B2
|
| gptkbp:encodes |
Myotubularin-related protein 13
|
| gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000114735
9645 |
| gptkbp:expressedIn |
gptkb:nervous_system
|
| gptkbp:foundIn |
gptkb:Homo_sapiens
|
| gptkbp:function |
phosphatase activity
regulation of endosomal trafficking |
| https://www.w3.org/2000/01/rdf-schema#label |
MTMR13
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
|
| gptkbp:mutationAssociatedWith |
peripheral neuropathy
|
| gptkbp:OMIM |
603557
|
| gptkbp:UniProtID |
Q9NZJ7
|
| gptkbp:bfsParent |
gptkb:SBF2
gptkb:CMT4 |
| gptkbp:bfsLayer |
7
|