Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease_type_2B
|
| gptkbp:encodes |
Ras-related protein Rab-7a
|
| gptkbp:Entrez_Gene_ID |
7879
ENSG00000137692 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:function |
autophagosome-lysosome fusion
late endosome maturation regulation of endo-lysosomal trafficking |
| gptkbp:HGNC_ID |
HGNC:9801
|
| https://www.w3.org/2000/01/rdf-schema#label |
RAB7A gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_3
3q21.3 |
| gptkbp:mutationAssociatedWith |
peripheral neuropathy
|
| gptkbp:OMIM |
602298
|
| gptkbp:organism |
gptkb:Homo_sapiens
|
| gptkbp:orthologInMouse |
Rab7a
|
| gptkbp:orthologInZebrafish |
rab7a
|
| gptkbp:product |
small molecule
|
| gptkbp:proteinFamily |
RAB family
|
| gptkbp:UniProtID |
gptkb:P51149
|
| gptkbp:bfsParent |
gptkb:Rab7
|
| gptkbp:bfsLayer |
7
|