Statements (17)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
Salla disease
infantile sialic acid storage disease |
| gptkbp:encodes |
sialin
|
| gptkbp:Entrez_Gene_ID |
26503
|
| gptkbp:expressedIn |
lysosomal membrane
|
| gptkbp:function |
sialic acid transporter
|
| gptkbp:HGNC_ID |
HGNC:11016
|
| https://www.w3.org/2000/01/rdf-schema#label |
SLC17A5
|
| gptkbp:locatedOnChromosome |
6q14-q15
|
| gptkbp:mutationAssociatedWith |
sialic acid storage diseases
|
| gptkbp:OMIM |
604369
|
| gptkbp:orthologInMouse |
Slc17a5
|
| gptkbp:proteinFamily |
gptkb:solute_carrier_family_17
|
| gptkbp:UniProtID |
Q9NRA2
|
| gptkbp:bfsParent |
gptkb:solute_carrier_family
|
| gptkbp:bfsLayer |
6
|