Statements (20)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
lysinuric protein intolerance
|
gptkbp:encodes |
y+LAT1 protein
|
gptkbp:Entrez_Gene_ID |
9056
|
gptkbp:expressedIn |
gptkb:kidney
liver intestine |
gptkbp:function |
amino acid transport
|
gptkbp:HGNC_ID |
HGNC:11056
|
https://www.w3.org/2000/01/rdf-schema#label |
SLC7A7
|
gptkbp:locatedOnChromosome |
14q11.2
|
gptkbp:memberOf |
gptkb:solute_carrier_family
|
gptkbp:mutationAssociatedWith |
aminoaciduria
|
gptkbp:OMIM |
603557
|
gptkbp:orthologInMouse |
Slc7a7
|
gptkbp:proteinFamily |
SLC7 family
|
gptkbp:publicTransit |
amino acid transporter
|
gptkbp:UniProtID |
Q9UHI5
|
gptkbp:bfsParent |
gptkb:solute_carrier_family
|
gptkbp:bfsLayer |
6
|