Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeSplicing |
yes
|
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease
nonsyndromic hearing loss |
| gptkbp:encodes |
gptkb:lysyl-tRNA_synthetase
|
| gptkbp:Entrez_Gene_ID |
3735
ENSG00000165186 |
| gptkbp:expressedIn |
gptkb:human
|
| gptkbp:function |
aminoacylation of tRNA with lysine
|
| gptkbp:HGNC_ID |
HGNC:6217
|
| https://www.w3.org/2000/01/rdf-schema#label |
KARS
|
| gptkbp:locatedOnChromosome |
16q23.1
|
| gptkbp:mutationAssociatedWith |
peripheral neuropathy
sensorineural deafness |
| gptkbp:OMIM |
601421
|
| gptkbp:orthologIn |
gptkb:Kars_(mouse)
|
| gptkbp:product |
Lysyl-tRNA synthetase, cytoplasmic and mitochondrial forms
|
| gptkbp:RefSeq |
NM_005548
|
| gptkbp:UniProtID |
Q15046
|
| gptkbp:bfsParent |
gptkb:Eka_Hospital_BSD
gptkb:RS_Premier_Bintaro |
| gptkbp:bfsLayer |
7
|