Statements (28)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alias |
gptkb:VLDL_receptor
gptkb:VLDLR |
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
gptkb:cerebellar_hypoplasia
gptkb:VLDLR-associated_cerebellar_hypoplasia |
gptkbp:encodes |
gptkb:VLDLR_protein
|
gptkbp:Entrez_Gene_ID |
gptkb:ENSG00000147852
7436 |
gptkbp:expressedIn |
gptkb:skeletal_muscle
brain heart adipose tissue |
gptkbp:fullName |
gptkb:very_low-density_lipoprotein_receptor
|
gptkbp:function |
lipoprotein receptor activity
reelin receptor |
gptkbp:HGNC_ID |
12698
|
https://www.w3.org/2000/01/rdf-schema#label |
Vldlr
|
gptkbp:locatedOnChromosome |
9
|
gptkbp:location |
gptkb:9p24.2
|
gptkbp:memberOf |
gptkb:low-density_lipoprotein_receptor_family
|
gptkbp:mutationAssociatedWith |
cerebellar ataxia
|
gptkbp:OMIM |
192977
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologIn |
mouse Vldlr
|
gptkbp:UniProtID |
P98155
|
gptkbp:bfsParent |
gptkb:VLDLR
|
gptkbp:bfsLayer |
7
|