Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:alternativeName |
gptkb:AlaRS
gptkb:CMT2N alanyl-tRNA synthetase 1 |
| gptkbp:associatedWith |
gptkb:Charcot-Marie-Tooth_disease,_axonal,_type_2N
Alanyl-tRNA synthetase deficiency |
| gptkbp:biologicalProcess |
translator
aminoacyl-tRNA ligase activity |
| gptkbp:cellularComponent |
gptkb:cytoplasm
|
| gptkbp:discoveredBy |
genetic research
|
| gptkbp:encodes |
gptkb:alanyl-tRNA_synthetase
|
| gptkbp:Entrez_Gene_ID |
16
ENSG00000132781 |
| gptkbp:expressedIn |
various tissues
|
| gptkbp:HGNC_ID |
gptkb:HGNC:7
|
| https://www.w3.org/2000/01/rdf-schema#label |
AARS gene
|
| gptkbp:locatedOnChromosome |
gptkb:chromosome_16
|
| gptkbp:numberOfExons |
22
|
| gptkbp:OMIM |
601065
|
| gptkbp:orthologInMouse |
gptkb:Aars
|
| gptkbp:product |
gptkb:AARS1
|
| gptkbp:UniProtID |
gptkb:P49588
|
| gptkbp:bfsParent |
gptkb:Charcot-Marie-Tooth_disease,_axonal,_type_2N
|
| gptkbp:bfsLayer |
8
|