Statements (21)
Predicate | Object |
---|---|
gptkbp:instanceOf |
gptkb:gene
|
gptkbp:alternativeSplicing |
yes
|
gptkbp:associatedWith |
asparagine synthetase deficiency
|
gptkbp:encodes |
asparagine synthetase
|
gptkbp:Entrez_Gene_ID |
440
ENSG00000070669 |
gptkbp:fullName |
asparagine synthetase (glutamine-hydrolyzing)
|
gptkbp:function |
catalyzes the synthesis of asparagine from aspartate
involved in amino acid biosynthesis |
gptkbp:geneType |
protein-coding
|
gptkbp:HGNC_ID |
gptkb:HGNC:746
|
https://www.w3.org/2000/01/rdf-schema#label |
ASNS
|
gptkbp:locatedOnChromosome |
7
|
gptkbp:mutationAssociatedWith |
microcephaly
progressive encephalopathy |
gptkbp:OMIM |
108370
|
gptkbp:organism |
gptkb:Homo_sapiens
|
gptkbp:orthologInMouse |
Asns
|
gptkbp:UniProtID |
P08243
|
gptkbp:bfsParent |
gptkb:NASDAQ:_ASNS
|
gptkbp:bfsLayer |
6
|