Statements (17)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alsoKnownAs |
FLVCR1
|
gptkbp:associatedWith |
hereditary sensory and autonomic neuropathy type 2
|
gptkbp:encodes |
mitochondrial carrier homolog 1 protein
|
gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000170291
28967 |
gptkbp:expressedIn |
various tissues including erythroid cells
|
gptkbp:function |
heme exporter
|
https://www.w3.org/2000/01/rdf-schema#label |
SLC49A1
|
gptkbp:locatedOnChromosome |
gptkb:chromosome_17
|
gptkbp:memberOf |
gptkb:solute_carrier_family
|
gptkbp:mutationAssociatedWith |
posterior column ataxia with retinitis pigmentosa
|
gptkbp:OMIM |
609144
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:UniProtID |
Q9Y5Y0
|
gptkbp:bfsParent |
gptkb:solute_carrier_family
|
gptkbp:bfsLayer |
6
|