Statements (23)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alsoKnownAs |
juvenile neuronal ceroid lipofuscinosis gene
|
| gptkbp:associatedWith |
Batten disease
|
| gptkbp:chromosomeArm |
gptkb:16p12.1
|
| gptkbp:discoveredIn |
1995
|
| gptkbp:encodes |
CLN3 protein
|
| gptkbp:Entrez_Gene_ID |
1201
|
| gptkbp:expressedIn |
brain
retina |
| gptkbp:function |
lysosomal function
endosomal trafficking |
| gptkbp:geneType |
protein-coding
|
| gptkbp:HGNC_ID |
2054
|
| https://www.w3.org/2000/01/rdf-schema#label |
CLN3
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
|
| gptkbp:mutationAssociatedWith |
1 kb deletion (common)
juvenile Batten disease |
| gptkbp:OMIM |
607042
|
| gptkbp:orthologInMouse |
Cln3
|
| gptkbp:orthologInYeast |
BTN1
|
| gptkbp:UniProtID |
Q13286
|
| gptkbp:bfsParent |
gptkb:16p13.13
|
| gptkbp:bfsLayer |
7
|