Statements (17)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:associatedWith |
hereditary spastic paraplegia type 47
|
gptkbp:encodes |
AP-4 complex subunit beta-1
|
gptkbp:Entrez_Gene_ID |
10716
ENSG00000143315 |
gptkbp:expressedIn |
gptkb:human
|
gptkbp:function |
component of adaptor protein complex 4
|
gptkbp:HGNC_ID |
HGNC:568
|
https://www.w3.org/2000/01/rdf-schema#label |
AP4B1
|
gptkbp:involvedIn |
vesicle-mediated transport
|
gptkbp:locatedOnChromosome |
chromosome 1
|
gptkbp:mutationAssociatedWith |
neurological disorders
|
gptkbp:OMIM |
607245
|
gptkbp:orthologInMouse |
Ap4b1
|
gptkbp:UniProtID |
gptkb:O00203
|
gptkbp:bfsParent |
gptkb:APB4
|
gptkbp:bfsLayer |
7
|